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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

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Title: Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Authors: 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.
Corporate Authors: Ocular CCDD Phenotyping Consortium
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101216. Date of Electronic Publication: 2024 Jul 18.
Publication Type: Journal Article
Journal Info: 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
Database: MEDLINE Ultimate
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