부산대학교 도서관

Wang T; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Vecchio D; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy.; Wu H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Sulovari A; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Coe BP; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Gillentine MA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Wilfert AB; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Perez-Jurado LA; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Sleyp Y; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.; Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Geisheker MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Han L; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Du B; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Barnett C; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Thompson E; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Shaw M; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Carroll R; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Catford R; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Palmer EE; Genetics of Learning Disability Service, Hunter New England Health Service, Waratah, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.; Zou X; Children Development Behavior Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China.; Ou J; Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, China.; Li H; Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, China.; Guo H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Avola E; Oasi Research Institute-IRCCS, Troina, Italy.; Calabrese G; Oasi Research Institute-IRCCS, Troina, Italy.; Elia M; Oasi Research Institute-IRCCS, Troina, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Van der Aa N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; McKenna B; Department of Psychology, Emory University, Atlanta, GA, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Malerba G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Bernardina BD; Child Neuropsychiatry Unit, AOUI, Verona, Italy.; Muglia P; UCB Pharma, Bruxelles, Belgium.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Franke B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Delatycki M; Murdoch Children's Research Institute, Melbourne, Australia.; Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Manning MA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Department of Pathology, Stanford University, Stanford, CA, USA.; Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Rommelse N; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Karakter Child and Adolescent Psychiatry Center, Nijmegen, Netherlands.; Amaral DG; Department of Psychiatry and Behavioral Sciences and the MIND Institute, University of California, Davis, Sacramento, CA, USA.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Trabetti E; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Michaelson JJ; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Pierce K; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA.; Courchesne E; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Romano C; Oasi Research Institute-IRCCS, Troina, Italy.; Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Xia K; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China.; Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE; PubMed not MEDLINE

Wang T; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Vecchio D; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy.; Wu H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Sulovari A; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Coe BP; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Gillentine MA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Wilfert AB; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Perez-Jurado LA; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Sleyp Y; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.; Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Geisheker MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Han L; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Du B; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Barnett C; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Thompson E; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Shaw M; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Carroll R; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Catford R; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Palmer EE; Genetics of Learning Disability Service, Hunter New England Health Service, Waratah, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.; Zou X; Children Development Behavior Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China.; Ou J; Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, China.; Li H; Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, China.; Guo H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Avola E; Oasi Research Institute-IRCCS, Troina, Italy.; Calabrese G; Oasi Research Institute-IRCCS, Troina, Italy.; Elia M; Oasi Research Institute-IRCCS, Troina, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Van der Aa N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; McKenna B; Department of Psychology, Emory University, Atlanta, GA, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Malerba G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Bernardina BD; Child Neuropsychiatry Unit, AOUI, Verona, Italy.; Muglia P; UCB Pharma, Bruxelles, Belgium.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Franke B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Delatycki M; Murdoch Children's Research Institute, Melbourne, Australia.; Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Manning MA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Department of Pathology, Stanford University, Stanford, CA, USA.; Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Rommelse N; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Karakter Child and Adolescent Psychiatry Center, Nijmegen, Netherlands.; Amaral DG; Department of Psychiatry and Behavioral Sciences and the MIND Institute, University of California, Davis, Sacramento, CA, USA.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.; Trabetti E; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Michaelson JJ; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Pierce K; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA.; Courchesne E; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Romano C; Oasi Research Institute-IRCCS, Troina, Italy.; Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Xia K; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China.; Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Wilfert, Amy B; Turner, Tychele N; Murali, Shwetha C; Hsieh, PingHsun; Sulovari, Arvis; Wang, Tianyun; Coe, Bradley P; Guo, Hui; Hoekzema, Kendra; Bakken, Trygve E; Winterkorn, Lara H; Evani, Uday S; Byrska-Bishop, Marta; Earl, Rachel K; Bernier, Raphael A; Zody, Michael C; Eichler, Evan E

Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Bettella E; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35129, Padua, Italy.; Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Zhao R; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Nowakowski TJ; UCSF Department of Anatomy, University of California, San Francisco, San Francisco, CA, 94143, USA.; UCSF Department of Psychiatry, University of California, San Francisco, San Francisco, CA, 94143, USA.; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, 94158, USA.; Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Wu H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Liu C; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Ni H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.; van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Rinne T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Long M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Zhao W; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Hu Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Colson C; Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.; Richard N; Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Romano C; Oasi Research Institute-IRCCS, 94108, Troina, Italy.; Castiglia L; Oasi Research Institute-IRCCS, 94108, Troina, Italy.; Bottitta M; Oasi Research Institute-IRCCS, 94108, Troina, Italy.; Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Erwin DJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013, Paris, France.; Afenjar A; APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.; Zhu B; Department of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.; Medical Faculty, Kunming University of Science and Technology, 650032, Kunming, Yunnan, China.; Bai B; Department of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.; Medical Faculty, Kunming University of Science and Technology, 650032, Kunming, Yunnan, China.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Herman K; Section of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento, CA, 95817, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Juusola J; GeneDx, Gaithersburg, MD, 20877, USA.; Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Büttner B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.; Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.; Scheffer IE; Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, 3084, Australia.; Regan BM; Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, 3084, Australia.; Malone S; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, 4101, Australia.; Gecz J; School of Medicine and the Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, Adelaide, SA, 5006, Australia.; Cobben J; Emma Children's Hospital AUMC, 1105 AZ, Amsterdam, The Netherlands.; North West Thames Genetics Service NHS, London, UK.; Weiss MM; Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands.; Waisfisz Q; Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.; Sartori S; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padua, 35128, Padua, Italy.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Bernier RA; Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.; Hunan Key Laboratory of Animal Models for Human Diseases, 410078, Changsha, Hunan, China.; Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Murgia A; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy. alessandra.murgia@unipd.it.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA. eee@gs.washington.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Goldmann JM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Hampstead JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Wong WSW; Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia 22042, USA.; Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Jonker MA; Department for Health Evidence, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA.; Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Centre, Nijmegen 6525 GA, The Netherlands.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.; Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; Maxwell GL; Department of Obstetrics and Gynecology, Inova Fairfax Department and Inova Schar Cancer Institute, Falls Church, Virginia 22042, USA.; Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Murali SC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Hsieh P; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Center for Medical Genetic & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Bakken TE; Allen Institute for Brain Science, Seattle, WA, USA.; Winterkorn LH; New York Genome Center, New York, NY, USA.; Evani US; New York Genome Center, New York, NY, USA.; Byrska-Bishop M; New York Genome Center, New York, NY, USA.; Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Zody MC; New York Genome Center, New York, NY, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA. khmiga@ucsc.edu.; Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Gershman A; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Bzikadze A; Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, San Diego, CA, USA.; Brooks S; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.; Howe E; Stowers Institute for Medical Research, Kansas City, MO, USA.; Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.; Wood J; Wellcome Sanger Institute, Hinxton, UK.; Chow W; Wellcome Sanger Institute, Hinxton, UK.; Armstrong J; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Fredrickson J; Department of Pathology, University of Washington, Seattle, WA, USA.; Pak E; Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Tigyi K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Kremitzki M; McDonnell Genome Institute at Washington University, St Louis, MO, USA.; Markovic C; McDonnell Genome Institute at Washington University, St Louis, MO, USA.; Maduro V; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Dutra A; Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bouffard GG; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.; Chang AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hansen NF; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Schmitt AD; Arima Genomics, San Diego, CA, USA.; Belton JM; Arima Genomics, San Diego, CA, USA.; Selvaraj S; Arima Genomics, San Diego, CA, USA.; Dennis MY; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.; Soto DC; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.; Sahasrabudhe R; DNA Technologies Core, Genome Center, University of California Davis, Davis, CA, USA.; Kaya G; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.; Quick J; Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.; Loman NJ; Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.; Holmes N; DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.; Loose M; DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.; Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.; Risques RA; Department of Pathology, University of Washington, Seattle, WA, USA.; Graves Lindsay TA; McDonnell Genome Institute at Washington University, St Louis, MO, USA.; Fulton R; McDonnell Genome Institute at Washington University, St Louis, MO, USA.; Hall I; McDonnell Genome Institute at Washington University, St Louis, MO, USA.; Paten B; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Howe K; Wellcome Sanger Institute, Hinxton, UK.; Timp W; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Young A; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.; Pevzner PA; Department of Computer Science and Engineering, University of California San Diego, San Diego, CA, USA.; Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; Sullivan BA; Department of Molecular Genetics and Microbiology, Division of Human Genetics, Duke University Medical Center, Durham, NC, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Lopes AM; Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Aston KI; Thompson E; Carvalho F; Gonçalves J; Huang N; Matthiesen R; Noordam MJ; Quintela I; Ramu A; Seabra C; Wilfert AB; Dai J; Downie JM; Fernandes S; Guo X; Sha J; Amorim A; Barros A; Carracedo A; Hu Z; Hurles ME; Moskovtsev S; Ober C; Paduch DA; Schiffman JD; Schlegel PN; Sousa M; Carrell DT; Conrad DF

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Bakken TE; Allen Institute for Brain Science, Seattle, WA 98109, USA.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.; Pepper MR; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.; Zhang Z; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Torene RI; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA. eee@gs.washington.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Wilfert AB; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.; Chao KR; National Institutes of Health Undiagnosed Diseases Program, US National Institutes of Health, Bethesda, Maryland, USA.; Kaushal M; Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.; Jain S; Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.; Zöllner S; Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, US National Institutes of Health, Bethesda, Maryland, USA.; Conrad DF; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE