Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder

¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

²Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America

³Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada

⁴Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

⁵Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁶Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany

⁷Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, United States of America

⁸Emory University School of Medicine, Atlanta, United States of America

⁹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America

¹⁰Genetics Department, APHP-Robert Debré University Hospital, Paris, France

¹¹Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands

¹²Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands

¹³Department of Radiology, University of California Los Angeles, Los Angeles, United States of America

¹⁴Department of Biochemistry, St. George’s University School of Medicine, St. George's, Grenada

¹⁵Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany

¹⁶Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

¹⁷College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

¹⁸Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia

¹⁹The University of Texas at Austin Dell Medical School, Austin, United States of America

²⁰GeneDx Inc., Gaithersburg, United States of America

²¹Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories

²²Department of Genetics, Hadassah Medical Center, Jerusalem, Israel

²³Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

²⁴Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt

²⁵Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan

²⁶3billion Inc., Seoul, Korea, Republic of

²⁷Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom

²⁸Aero Hospital, Wah Cantt, Pakistan

²⁹Department of Neurology, Oslo University Hospital, Oslo, Norway

³⁰University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan

³¹Ambry Genetics, Aliso Viejo, United States of America

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