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ResearchIn-Press PreviewGeneticsNeuroscience
Open Access | 10.1172/JCI159806
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Chen, G. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Yu, B. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Tan, S. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Tan, J.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Jia, X. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Zhang, Q. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Zhang, X. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Jiang, Q. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Hua, Y. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Han, Y. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Luo, S. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Hoekzema, K.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Bernier, R. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Earl, R. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Kurtz-Nelson, E. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Idleburg, M.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Khetarpal, S. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Clark, R. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Sebastian, J. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Fernandez-Jaen, A.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Alvarez, S. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by King, S. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Ramos, L.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Santos, M. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Martin, D.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Hu, Z.
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
Find articles by Xia, K. in: JCI | PubMed | Google Scholar
1Center for Medical Genetics, Central South University, Changsha, China
2Department of Genome Sciences, University of Washington School of Medicine, Seattle, American Samoa
3Department of Psychiatry, University of Washington, Seattle, American Samoa
4Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, American Samoa
5Department of Human Genetics, University of Pittsburgh, Pittsburgh, American Samoa
6Department of Pediatric Neurology, Universidad Europea de Madrid, Madrid, Spain
7Department of Genomics and Medicine, NIMGenetics, Madrid, Spain
8Department of Neurology, Baylor College of Medicine, Houston, American Samoa
9Mendelics Genomic Analysis, Mendelics Genomic Analysis, Sao Paulo, Brazil
10Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Brazil
11Department of Pediatrics, University of Michigan, Ann Arbor, United States of America
12Department of Pediatrics, University of Michigan, Ann Arbor, American Samoa
13Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom
14Translational Medicine, UCB Pharma, Slough, United Kingdom
15Department of Genome Sciences, University of Washington, Seattle, United States of America
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Guo, H.
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Published August 2, 2022 - More info
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. Excess of likely gene-disruptive (LGD) mutations of GIGYF1 was implicated in ASD. Here, we reported that GIGYF1 was the second most mutated gene among known ASD high-confidence risk genes. We investigated the inheritance of 46 GIGYF1 LGD variants, including the highly recurrent mutation, c.333del:p.L111Rfs*234. Inherited GIGYF1 heterozygous LGD variants were 1.8 times more common than de novo mutations. Unlike most high-confidence genes, ASD individuals with GIGYF1 LGD variants were less likely to have cognitive impairments. Using a Gigyf1 conditional knockout mouse model, we showed that haploinsufficiency in the developing brain led to social impairments without significant cognitive impairments. In contrast, homozygous mice showed more severe social disability as well as cognitive impairments. Gigyf1 deficiency in mice led to a reduction of upper layer cortical neurons accompanied by decreased proliferation and increased differentiation of neural progenitor cells. We showed that GIGYF1 regulated the recycling of IGF-1R to cell surface. Knockout of GIGYF1 led to a decreased level of IGF-1R on the cell surface disrupting the IGF-1R/ERK signaling pathway. In summary, our findings showed that GIGYF1 was a regulator of IGF-1R recycling. Haploinsufficiency of GIGYF1 was associated with autistic behaviors likely through interference with IGR-1R/ERK signaling pathway.