부산대학교 도서관

Nugent, Alicia A ; Kolpak, Adrianne L ; Engle, Elizabeth C

In Current Opinion in Neurobiology October 2012 22(5):837-843

Tischfield, Max A ; Cederquist, Gustav Y ; Gupta, Mohan L, Jr ; Engle, Elizabeth C

In Current Opinion in Genetics & Development 2011 21(3):286-294

He W; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. weixiong.he@uq.net.au.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. weixiong.he@uq.net.au.; van der Most PJ; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Ong JS; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Hwang LD; Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.; Wu Y; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Magnø MS; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway.; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Vehof J; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; Department of Ophthalmology, University of Groningen, Groningen, The Netherlands.; Department of Ophthalmology, Vestfold Hospital Trust, Tønsberg, Norway.; Krebs K; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Mauring L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Abner E; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Martin NG; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Plotnikov D; Central Research Laboratory, Kazan State Medical University, Kazan, Russia.; Jiang C; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; Melles RB; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; Gharahkhani P; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Snieder H; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Palumaa T; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Eye Clinic, East Tallinn Central Hospital, Tallinn, Estonia.; Kaljurand K; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Eye Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Guggenheim JA; School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.; Mackey DA; Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, WA, Australia.; Engle EC; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Choquet H; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; MacGregor S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.

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

Yazdani, Ahmad ; Chung, Daniel C ; Abbaszadegan, Mohammad R ; Al-Khayer, Kholoud ; Chan, Wai-Man ; Yazdani, Milad ; Ghodsi, Kazem ; Engle, Elizabeth C ; Traboulsi, Elias I

In American Journal of Ophthalmology 2003 136(5):861-865

Flaherty, Maree P ; Grattan-Smith, Padraic ; Steinberg, Adam ; Jamieson, Robyn ; Engle, Elizabeth C

In Ophthalmology 2001 108(7):1313-1322

Traboulsi, Elias I ; Lee, Bjorn A ; Mousawi, Adel ; Khamis, A.R ; Engle, Elizabeth C

In American Journal of Ophthalmology 2000 129(5):658-662

Almpani K; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.; Devine KR; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.; Liberton DK; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.; Mishra R; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.; Bassim C; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.; Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Facio FM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Webb BD; Department of Genetics and Genomic Sciences and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Engle EC; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Departments of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Howard Hughes Medical Institute, Chevy Chase, Boston, MA, USA.; Wang Jabs E; Department of Genetics and Genomic Sciences and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Departments of Genetic Medicine and Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Collins FS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD, USA.; Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Lee JS; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.

Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE

Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

European Journal of Human Genetics. Mar2014, Vol. 22 Issue 3, p344-349. 6p.

Ahangari, Narges; Munoz, David G; Coulombe, Josee; Gray, Douglas A; Engle, Elizabeth C; Cheng, Long; Woulfe, John

Journal of Neuropathology & Experimental Neurology; Oct2021, Vol. 80 Issue 10, p944-954, 11p

Liberton DK; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Almpani K; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Mishra R; Department of Orofacial Sciences, School of Dentistry, University of California, San Francisco, CA 94143, USA.; Bassim C; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; On Behalf Of The Moebius Syndrome Research Consortium; Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Engle EC; Departments of Neurology and Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Neurology and Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.; Collins FS; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Lee JS; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601 (Electronic) Linking ISSN: 16604601 NLM ISO Abbreviation: Int J Environ Res Public Health Subsets: MEDLINE

Martinez Sanchez M; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Chan WM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; MacKinnon SE; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Barry B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Engle EC; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.; Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Broad Institute of MIT and Harvard, Cambridge, MA.; Narisu N; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Zhang Z; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Bonnycastle LL; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Broad Institute of MIT and Harvard, Cambridge, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Yan T; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Broad Institute of MIT and Harvard, Cambridge, MA.; Regeneron Pharmaceuticals, Tarrytown, NY.; Swift AJ; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; MacKinnon SE; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Oystreck DT; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.; Eye Clinic, IWK Health Centre, Halifax, NS, Canada.; Clinical Vision Science, Faculty of Health, Dalhousie University, Halifax, NS, Canada.; Rucker JC; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY.; Deparment of Neurology, New York University Grossman School of Medicine, New York, NY.; Department of Ophthalmology, New York University Grossman School of Medicine, New York, NY.; Frempong T; Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.; Department of Ophthalmology, Harvard Medical School, Boston, MA.; FitzGibbon EJ; Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD.; Lee JS; Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.; Hao K; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Andrews C; Department of Neurology, Boston Children's Hospital, Boston, MA.; Erazo M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Facio FM; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.; Naidich TP; Department of Diagnostic, Molecular, and Interventional Radiology, Icahn School of Medicine at Mount Sinai, New York, NY.; Chines PS; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Lehky TJ; Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Toro C; Undiagnosed Disease Program, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Gropman AL; Division of Neurogenetics, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.; Butman JA; Radiology & Imaging Sciences Department, Clinical Center, National Institutes of Health, Bethesda, MD.; Zalewski CK; Otolaryngology Branch, Audiology Unit, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD.; Brewer CC; Otolaryngology Branch, Audiology Unit, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD.; Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD.; Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD.; Paul SM; Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD.; Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.; Pierpaoli C; Laboratory on Quantitative Medical Imaging, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, MD.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA.; Department of Radiology, Harvard Medical School, Boston, MA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Collins FS; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Broad Institute of MIT and Harvard, Cambridge, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Anderson KJ; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; Thorolfsdottir ET; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; Nodelman IM; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.; Halldorsdottir ST; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Benonisdottir S; Institute of Physical Sciences, University of Iceland, Reykjavik, Iceland.; Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK.; Alghamdi M; Medical Genetics Division, Pediatric Department, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Almontashiri N; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Kingdom of Saudi Arabia.; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Britton JF; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Burke S; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Cohen ASA; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; de Diego Boguñá C; Servicio de Genética, Hospital Universitario de Toledo, Toledo, Spain.; Eichler EE; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Faivre L; INSERM UMR1231, GAD team, Univeristé de Bourgogne Europe, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.; Fradin M; Service de Genetique Medicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU Rennes, Rennes, France.; Fuhrmann N; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Gao CW; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Garg G; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; Hunter Genetics, Waratah, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Grečmalová D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Czech Republic.; Grippa M; SSD Medical Genetics, Maternal and Child Department, AOU Policlinico Modena, Modena, Italy.; Harris JR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Kennedy Krieger Institute, Department of Neurology, Baltimore, Maryland, USA.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Hershkovitz T; The Genetics Institute, Galilee Mefical Center, Nahriya, Israel.; Hubbard S; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Janssens K; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Koptagel MA; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Ladha FA; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.; Lapunzina P; INGEMM-Institute of Medical and Molecular Genetics, IdiPAZ- CIBERER- Hospital Universitario La Paz, Madrid, Spain and ERNITHACA, Madrid, Spain.; Lindau T; Department of Pediatrics, Gemeinschaftsklinikum Mittelrhein Kemperhof, Koblenzer Straße 115-155, 56073 Koblenz, Germany.; Meuwissen M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Minicucci A; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy.; Neuhaus E; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.; Nizon M; Service de Génétique Médicale, Unité de Génétique Clinique, Nantes, France.; Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Park K; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital Campus, Herston, Brisbane, Australia.; Pfundt R; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, The Netherlands.; Prasun P; Division of Genetics, Department of Pediatrics West Virginia School of Medicine, Morgantown, USA.; Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.; Robin NH; Department of Genetics, UAB Heersink School of Medicine, Birmingham AL, USA.; Ronspies C; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.; Roohi J; Department of Genetics, Mid-Atlantic Permanente Medical Group, Washington, DC, USA.; Rosenfeld J; Baylor Genetics, Houston, TX, USA.; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.; Saenz M; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia.; Thiffault I; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Thull S; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.; Velmans C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Verseput J; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Vitobello A; INSERM UMR1231, GAD team, Univeristé de Bourgogne Europe, Dijon, France.; Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China.; Weiss K; The Genetics Institute Rambam Health Care Campus Haifa Israel.; Wentzensen IM; GeneDx, LLC, Gaithersburg MD 20877 USA.; Pilarowski G; Chan Zuckerberg Biohub, San Francisco, CA, USA.; Eysteinsson T; Department of Physiology, Faculty of Medicine, University of Iceland.; Department of Ophthalmology, Landspitali University Hospital, Reykjavik, Iceland.; Gillentine M; Independent Scientist.; Stefánsson K; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Helgason A; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Department of Anthropology, University of Iceland, Reykjavik, Iceland.; Bowman GD; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.; Bjornsson HT; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.; Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA; Howard Hughes Medical Institute, Chevy Chase, MD.; Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA.; Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Glaze C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Russell KA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Regeneron Pharmaceuticals, Tarrytown, NY.; Lee AS; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.; Andrews C; Department of Neurology, Boston Children's Hospital, Boston, MA.; Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.; Wirth MM; Department of Neurology, Boston Children's Hospital, Boston, MA.; Bekele S; Department of Neurology, Boston Children's Hospital, Boston, MA.; Toffoloni M; Department of Neurology, Boston Children's Hospital, Boston, MA.; Bradford VR; Department of Neurology, Boston Children's Hospital, Boston, MA.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA.; Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA.; Talkowski ME; Department of Neurology, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA; Department of Radiology, Harvard Medical School, Boston, MA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD; Department of Ophthalmology, Boston Children's Hospital, Boston, MA; Department of Ophthalmology, Harvard Medical School, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: elizabeth.engle@childrens.harvard.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; King J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States.; Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States.; Jeong R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, Massachusetts, United States.; Rothman E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Easterbrooks T; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Regeneron Pharmaceuticals, Tarrytown, New York, United States.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; de Berardinis T; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy.; Magli A; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy.; Koc F; Department of Ophthalmology, Faculty of Medicine, Izmir Katip Celebi University, Izmır, Turkey.; Asakawa K; Neurobiology and Pathology Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.; Kawakami K; Laboratory of Molecular and Developmental Biology, National Institute of Genetics; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka, Japan.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Radiology, Harvard Medical School, Boston, Massachusetts, United States.; Bulyk ML; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, Massachusetts, United States.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States.; Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States.; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Puri D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Barry BJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

Whitman, Mary C; Miyake, Noriko; Nguyen, Elaine H; Bell, Jessica L; Ruiz, Paola M Matos; Chan, Wai-Man; Gioia, Silvio Alessandro Di; Mukherjee, Nisha; Barry, Brenda J; Bosley, T M; Khan, Arif O; Engle, Elizabeth C

Human Molecular Genetics; 9/15/2019, Vol. 28 Issue 18, p3113-3125, 13p

Grant, P Ellen; Im, Kiho; Ahtam, Banu; Laurentys, Cynthia T; Chan, Wai-Man; Brainard, Maya; Chew, Sheena; Drottar, Marie; Robson, Caroline D; Drmic, Irene; Engle, Elizabeth C

Cerebral Cortex; Aug2019, Vol. 29 Issue 8, p3561-3576, 16p

Jamuar, Saumya S; Schmitz-Abe, Klaus; D'Gama, Alissa M; Drottar, Marie; Chan, Wai-Man; Peeva, Maya; Servattalab, Sarah; Lam, Anh-Thu N; Delgado, Mauricio R; Clegg, Nancy J; Zayed, Zayed Al; Dogar, Mohammad Asif; Alorainy, Ibrahim A; Jamea, Abdullah Abu; Abu-Amero, Khaled; Griebel, May; Ward, Wendy; Lein, Ed S; Markianos, Kyriacos; Barkovich, A James; Robson, Caroline D; Grant, P Ellen; Bosley, Thomas M; Engle, Elizabeth C; Walsh, Christopher A; Yu, Timothy W

Nature Genetics. April, 2017, Vol. 49 Issue 4, p606, 7 p.

Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. arthur.lee@childrens.harvard.edu.; Ayers LJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kosicki M; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Chan WM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Fozo LN; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Pratt BM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Collins TE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Zhao B; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Rose MF; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Medical Genetics Training Program, Harvard Medical School, Boston, MA, USA.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Tenney AP; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lee C; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Harvard College, Cambridge, MA, USA.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Bradford VR; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Jurgens JA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Lee EA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Pennacchio LA; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Medical Genetics Training Program, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.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