부산대학교 도서관

Lee KAV; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Langholm C; Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Lin T; Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Jin K; School of Medicine, University of Massachusetts Chan, Worcester, Massachusetts, USA.; Aboobakar IF; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Oke I; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA mary.whitman@childrens.harvard.edu.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

Martinez Sanchez M; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Meher N; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; DeBruyn H; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Jain A; Research Informatics, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts, USA.; Sun L; Research Informatics, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts, USA.; Gulkas S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Altschwager P; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Fulton A; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Martinez-Sanchez M; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.; Skarnes W; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.; Jain A; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.; Vemula S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.; Sun L; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.; Rockowitz S; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C; Matos Ruiz, Paola M; Pratt, Brandon M; England, Eleina M; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R; Foster, Emma E; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; et al; Ocular CCCDD Phenotyping Consortium; Gerth-Kahlert, Christina

French CE; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Andrews NC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Beggs AH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Boone PM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Brownstein CA; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Chopra M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.; Chou J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Chung WK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Doan RN; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Ebrahimi-Fakhari D; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Goldstein RD; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of General Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Irons M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Jacobsen C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Kenna M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.; Lee T; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Urology, Boston Children's Hospital, Boston, MA, USA.; Department of Surgery, Harvard Medical School, Boston, MA, USA.; Madden JA; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Majmundar AJ; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.; Mann N; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.; Morton SU; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Poduri A; Children's Rare Disease Collaborative, 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.; Randolph AG; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA, USA.; Roberts AE; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.; Roberts S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Sampson MG; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.; Shao DD; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Sharma A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Shearer E; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.; Shimamura A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA.; Dana Farber Cancer Institute, Boston, MA, USA.; Snapper SB; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.; Srivastava S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Thiagarajah JR; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.; Whitman MC; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Wojcik MH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Sliz P; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Viola Lee KA; Whitman MC

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

Lee KAV; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; University of South Florida Morsani College of Medicine, Tampa, Florida.; Tesdahl C; University of South Florida Morsani College of Medicine, Tampa, Florida.; Aboobakar IF; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; Jain A; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, Massachusetts.; Martinez Sanchez M; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; Jin K; University of Massachusetts Chan Medical School, Worcester, Massachusetts.; Oke I; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.

Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE

Vemula S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; Osman A; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Yang X; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; Aronchik G; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Martinez Sanchez M; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; Meher N; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, 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

Lee KAV; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; University of South Florida Morsani College of Medicine, Tampa, Florida.; Aboobakar IF; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; Jain A; Department of Bioinformatics, Boston Children's Hospital, Boston, Massachusetts.; Tesdahl CD; University of South Florida Morsani College of Medicine, Tampa, Florida.; Jin K; University of Massachusetts Chan Medical School, Worcester, Massachusetts.; Oke I; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; Department of Population Medicine, Harvard Medical School, Boston, Massachusetts.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts. Electronic address: mary.whitman@childrens.harvard.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

Jin K; University of Massachusetts Chan School of Medicine, Worcester.; Aboobakar IF; Department of Ophthalmology, Massachusetts Eye and Ear and Harvard Medical School, Boston.; Whitman MC; Department of Ophthalmology, Massachusetts Eye and Ear and Harvard Medical School, Boston.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Oke I; Department of Ophthalmology, Massachusetts Eye and Ear and Harvard Medical School, Boston.; Department of Ophthalmology, Boston Children's Hospital and 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

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

Kilic S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Bove J; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Boston Orthoptic Fellowship Program, Boston, Massachusetts, USA.; So BN; Harvard Medical School, Boston, Massachusetts, USA.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; F.M. Kirby Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.

Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol Subsets: 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

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

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.; Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; King J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Chan WM; 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.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; 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.; Jeong R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Rothman E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Easterbrooks T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Di Gioia SA; 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.; Regeneron Pharmaceuticals, Tarrytown, NY, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; 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, Izmir, 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).; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA.; Bulyk ML; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 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.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Gregg AT; Harvard Medical School, Boston, Massachusetts.; Gateman T; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Whitman MC; Harvard Medical School, Boston, Massachusetts; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts. Electronic address: mary.whitman@childrens.harvard.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9710011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3933 (Electronic) Linking ISSN: 10918531 NLM ISO Abbreviation: J AAPOS Subsets: MEDLINE

Vemula S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Muvavarirwa T; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Doornbos F; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, 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

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.; Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Chan WM; 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.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Glaze C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Russell KA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Di Gioia SA; 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.; Regeneron Pharmaceuticals, Tarrytown, NY, 10591, USA.; Lee AS; 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.; Andrews C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Shaaban S; 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.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wirth MM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bekele S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Toffoloni M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bradford VR; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Mensching FM; Department of Neurology, Boston Children's Hospital, 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.; 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.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Weisburd B; 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.; 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.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Talkowski ME; Department of Neurology, Harvard Medical School, Boston, MA, USA.; 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.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA.; Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, 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.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

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