부산대학교 도서관

Hall A; Assistant professor in the Division of Genetics and Metabolism in the Department of Pediatrics and a core faculty member in the Center for Precision Medicine at the University of Wisconsin-Madison.; Webb BD; Associate professor in the Division of Genetics and Metabolism in the Department of Pediatrics and a core faculty member in the Center for Precision Medicine at the University of Wisconsin-Madison.; Meyn MS; Founder of the Center for Precision Medicine and the Undiagnosed Disease Program at the University of Wisconsin-Madison.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101649265 Publication Model: Electronic Cited Medium: Internet ISSN: 2376-6980 (Electronic) NLM ISO Abbreviation: AMA J Ethics Subsets: MEDLINE

Juliá-Palacios N; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muñoz-Pujol G; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Bertoli-Avella AM; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Gómez-Chiari M; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muchart-López J; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Paredes-Fuentes AJ; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; O'Callaghan M; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Machado-Casas IS; Neuropediatrics and Neurodevelopment Unit, Hospital Universitario Clínico San Cecilio, 18007 Granada, Spain.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Garcia-Cazorla A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Neurometabolism and Synaptic Metabolism Lab, Department of Neurology and MetabERN, Hospital Sant Joan de Deu, 08950 Barcelona, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 1985717413 Tehran, Iran.; Zonic E; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Anjum MN; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Al-Sannaa N; Johns Hopkins Aramco Health Care, 34465 Dhahran, Saudi Arabia.; Abd Elmaksoud M; Department of Pediatrics, Neurology Unit, Faculty of Medicine, Alexandria University, 21526 Alexandria, Egypt.; Ababneh F; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, 11481 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, 11481 Riyadh, Saudi Arabia.; Alijanpour S; Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, 3149969415 Karaj, Iran.; Tonekaboni SH; Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468 Tehran, Iran.; Fayazi A; Department of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, 6517838678 Hamadan, Iran.; Urbaniak M; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Barba U; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Hoenicka J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Palau F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Ortigoza-Escobar JD; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Ribes A; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Santos-Ocaña C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Sevilla, Spain.; Tyler M; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Gaffney P; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Carroll CJ; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Tort F; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Wierenga KJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Baide-Mairena H; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Department of Pediatrics, Hospital General Granollers, 08402 Barcelona, Spain.; Urreizti R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Liu NN; Division of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.; Hu R; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Hubbard SJ; Division of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.; Salemi SE; Division of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.; Baljinnyam E; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Pradhan P; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Smith G; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Webb BD; Division of Genetics and Metabolism - Department of Pediatrics, Center of Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: bdwebb@wisc.edu.; Marro SG; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: samuele.marro@mssm.edu.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Karger LM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Edelmann L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Liao J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Division of Clinical Genetics, Department of Pediatrics, Morgan Stanley Children's Hospital and Columbia University Medical Center, New York, New York, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

D'Onofrio, Gianluca; Cuccurullo, Claudia; Larsen, Silje Kathrine; Severino, Mariasavina; D'Amico, Alessandra; Brønstad, Kirsten; AlOwain, Mohammed; Morrison, Jennifer L; Wheeler, Patricia G; Webb, Bryn D; Alfalah, Abdullah; Iacomino, Michele; Uva, Paolo; Coppola, Antonietta; Merla, Giuseppe; Salpietro, Vincenzo Damiano; Zara, Federico; Striano, Pasquale; Accogli, Andrea; Arnesen, Thomas; Bilo, Leonilda

Clinical Genetics. 104:371-376

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

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

Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. bdwebb@wisc.edu.; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA. bdwebb@wisc.edu.; Lau LY; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Tsevdos D; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Shewcraft RA; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Corrigan D; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Shi L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Lee S; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Tyler J; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Li S; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Wang Z; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Stolovitzky G; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Edelmann L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Chen R; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Schadt EE; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Li L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA. dlleely@gmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Heilmann JM; Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Hall AL; Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Rice GM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Gundersen Health System, La Crosse Clinic, La Crosse, Wisconsin.; Seaborg KA; Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Pavelec DM; Biotechnology Center, University of Wisconsin-Madison, Madison, Wisconsin.; Shao X; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Wisconsin State Laboratory of Hygiene, Madison, Wisconsin.; Horner V; Wisconsin State Laboratory of Hygiene, Madison, Wisconsin.; Department of Pathology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Meyn S; Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Webb BD; Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, bdwebb@wisc.edu.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Publisher: University of Wisconsin School of Medicine and Public Health Country of Publication: United States NLM ID: 9716054 Publication Model: Print Cited Medium: Internet ISSN: 2379-3961 (Electronic) Linking ISSN: 10981861 NLM ISO Abbreviation: WMJ 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

Schneeberger, Pauline E; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D; Coci, Emanuele G; Jamra, Rami Abou; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M; Javaher-Haghighi, Poupak; Bedeschi, Maria F; Ajmone, Paola F

Brain: A Journal of Neurology. Aug2020, Vol. 143 Issue 8, p2437-2453. 17p.

Gates RW; Department of Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Webb BD; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; DeFilippo C; Division of Genomic Medicine, Department of Pediatrics, UC Davis MIND Institute, Sacramento, California, USA.; Ruzhnikov MRZ; Division of Child Neurology, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Zerafati-Jahromi G; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Oxman E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Hoang HD; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Charng WL; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Kotla T; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Ishibashi K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Sebaoui S; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Luedtke K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Winrow B; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Center for Computational Genomics Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Manso-Basúz C; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Spataro N; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Kannu P; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Athey T; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Peroutka C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Barnes C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Anadiotis G; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Magnussen K; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Moles-Fernandez A; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Berger S; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Grant CL; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Arnadottir GA; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Sulem TS; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Massey S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; D'Gama AM; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Valentine R; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Trowbridge SK; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tran Y; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Hall AL; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; McGivern B; GeneDx, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Dahiya S; Department of Pathology, Washington University in St. Louis, St. Louis, MO, USA.; Turner TN; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Corbin JG; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Pak SC; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Zohn IE; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA. Electronic address: izohn@childrensnational.org.; Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address: gurnettc@wustl.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

Salemi SE; Division of Genetics and Metabolism - Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.; Baljinnyam E; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Liu NN; Division of Genetics and Metabolism - Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA.; Hu R; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Marro SG; Institute for Regenerative Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Nash Family Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Webb BD; Division of Genetics and Metabolism - Department of Pediatrics, Center of Human Genomics and Precision Medicine, University of Wisconsin - School of Medicine and Public Health, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: bdwebb@wisc.edu.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Prasun P; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Evans A; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Cork E; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Houten SM; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Webb BD; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Webb BD; Department of Pediatrics and Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Nowinski SM; Department of Metabolism and Nutritional Programming, Van Andel Institute, Grand Rapids, MI, United States.; Solmonson A; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Ganesh J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Rodenburg RJ; Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, Netherlands.; Leandro J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Evans A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Vu HS; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Naidich TP; Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.; DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Rutter J; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Department of Biochemistry, University of Utah, Salt Lake City, UT, United States.; Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Francesco Bruni; Ivano Di Meo; Emanuele Bellacchio; Bryn D. Webb; Robert McFarland; Zofia M.A. Chrzanowska-Lightowlers; Langping He; Ewa Skorupa; Isabella Moroni; Anna Ardissone; Anna Walczak; Henna Tyynismaa; Pirjo Isohanni; Hanna Mandel; Holger Prokisch; Tobias Haack; Penelope E. Bonnen; Enrico Bertini; Ewa Pronicka; Daniele Ghezzi; Robert W. Taylor; Daria Diodato

Hum Mutat
Hum. Mutat. 39, 563-578 (2018)

Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, 02115, USA.; Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Robson CD; Department of Radiology, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Radiology, Harvard Medical School, Boston, MA, 02115, USA.; Facio FM; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.; Van Ryzin C; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.; Chan WM; Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, 20892-1404, USA.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, 20892, USA.; Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.; King KA; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.; Brewer C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.; Almpani K; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, 20892, USA.; Lee JS; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, 20892, USA.; Delaney A; Pediatric Endocrinology and Metabolism, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, 20892, USA.; St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; FitzGibbon EJ; Laboratory of Sensorimotor Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA.; Lee PR; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.; Paul SM; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, MD, 20892, USA.; Departments of Biomedical Engineering and Physical Medicine and Rehabilitation, JHU School of Medicine, Baltimore, MD, 21205, USA.; Abdul-Rahman OA; Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.; Munroe-Meyer Institute, Omaha, NE, 68106, USA.; Nebraska Medical Center, Omaha, NE, 68198-5450, USA.; Webb BD; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin - Madison, Madison, WI, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Moller HU; Aarhus University (Emeritus), Aarhus, Denmark.; Larsen DA; Aarhus University (Emeritus), Aarhus, Denmark.; Antony JH; Children's Hospital Westmead, Westmead, NSW, Australia.; Troedson C; Children's Hospital Westmead, Westmead, NSW, Australia.; Ma A; Children's Hospital Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, Australia.; Ragnhild G; Department of Medical Genetics, University Hospital North Norway, Tromsø, Norway.; Wirgenes KV; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Tham E; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, 02115, USA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, 02115, USA.; Collins FS; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.; Office of the Director, NIH, Bethesda, MD, 20892, USA.; Manoli I; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA. manolii@mail.nih.gov.; Engle EC; Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Kirby Center, Boston Children's Hospital, Boston, MA, 02115, USA. elizabeth.engle@childrens.harvard.edu.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA. elizabeth.engle@childrens.harvard.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Evans A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Naidich TP; Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; M Bird L; Department of Pediatrics, University of California San Diego, Rady Children's Hospital, San Diego, California, USA.; Parikh S; Neurometabolism & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA.; Fernandez Garcia M; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Henderson LB; GeneDx, Gaithersburg, Maryland, USA.; Millan F; GeneDx, Gaithersburg, Maryland, USA.; Si Y; GeneDx, Gaithersburg, Maryland, USA.; Brennand KJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Hung P; Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Rucker JC; Department of Neurology, New York University Grossman School of Medicine, New York, New York, USA.; Department of Ophthalmology, New York University Grossman School of Medicine, New York, New York, USA.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; Schadt EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. bryn.webb@mssm.edu.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. bryn.webb@mssm.edu.; Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Jabs EW; Department of Genetics and Genomic Sciences, 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.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE