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ResearchIn-Press PreviewGeneticsNeuroscience
Open Access | 
10.1172/JCI191729
Disrupting Integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Xiaoxia Peng,1 Xiangbin Jia,1 Hanying Wang,1 Jingjing Chen,1 Xiaolei Zhang,1 Senwei Tan,1 Xinyu Duan,2 Can Qiu,1 Mengyuan Hu,1 Haiyan Hou,1 Ilaria Parenti,3 Alma Kuechler,3 Frank J. Kaiser,3 Alicia Renck,4 Raymond Caylor,5 Cindy Skinner,5 Joseph Peeden,6 Benjamin Cogne,7 Bertrand Isidor,8 Sandra Mercier,7 Gael Nicolas,9 Anne-Marie Guerrot,9 Flavio Faletra,10 Luciana Musante,11 Lior Cohen,12 Gaber Bergant,13 Goran Čuturilo,14 Borut Peterlin,13 Andrea Seeley,15 Kristine Bachman,15 Julian A. Martinez-Agosto,16 Conny van Ravenswaaij-Arts,17 Dennis Bos,17 Katherine H. Kim,18 Tobias Bartolomaeus,19 Zelia Schmederer,19 Rami Abou Jamra,19 Erfan Aref-Eshghi,20 Wenjing Zhao,21 Yongyi Zou,22 Zhengmao Hu,1 Qian Pan,1 Faxiang Li,1 Guodong Chen,1 Jiada Li,1 Zhangxue Hu,2 Kun Xia,1 Jieqiong Tan,1 and Hui Guo1
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Peng, X. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Jia, X. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Wang, H. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Chen, J. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Zhang, X. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Tan, S. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Duan, X. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Qiu, C. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Hu, M. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Hou, H. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Parenti, I. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Kuechler, A. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Kaiser, F. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Renck, A. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Caylor, R. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Skinner, C. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Peeden, J. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Isidor, B. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Mercier, S. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Nicolas, G. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Guerrot, A. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Faletra, F. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Musante, L. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Cohen, L. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Bergant, G. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Čuturilo, G. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Peterlin, B. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Seeley, A. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Bachman, K. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Martinez-Agosto, J. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by van Ravenswaaij-Arts, C. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Bos, D. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Kim, K. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Bartolomaeus, T. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Schmederer, Z. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Abou Jamra, R. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Pan, Q. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Li, F. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Chen, G. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Li, J. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Hu, Z. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
Find articles by Xia, K. in: PubMed | Google Scholar
1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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1Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Mo, School of Life Sciences, Central South University, Changsha, China
2Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China
3Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
4Driscoll Children’s Hospital, Corpus Christi, United States of America
5Greenwood Genetic Center, Greenwood, United States of America
6East Tennessee Children’s Hospital, The University of Tennessee Department of Medicine, Knoxville, United States of America
7Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
8Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
9Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy
12Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel
13Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Šlajmerjeva, Slovenia
14Faculty of Medicine, University of Belgrade, Belgrade, Republic of Serbia
15Medical Genetics, Geisinger Medical Center, Danville, United States of America
16Department of Human Genetics, Division of Medical Genetics, Department of P, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
17Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands
18Division of Genetics, Genomics, and Metabolism, Department of Pediatrics, Ann & Lurie Children’s Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, United States of America
19Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
20GeneDx, LLC, Gaithersburg, United States of America
21Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Bir, The First People’s Hospital of Yunnan Province; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
22Department of Medical Genetic, Jiangxi Maternal and Child Health Hospital, Nanchang, China
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Published September 18, 2025 - More info
Copyright © 2025, Peng et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)