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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney, Alan P; Di Gioia, Silvio Alessandro; Webb, Bryn D; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J; Barry, Brenda J; Ray, Tammy; Kosicki, Michael; Robson, Caroline D; Zhang, Zhongyang; Collins, Thomas E; Gelber, Alon; Pratt, Brandon M; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E; Van Ryzin, Carol; Lehky, Tanya J; Zalewski, Christopher; King, Kelly A; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Facio, Flavia M; Narisu, Narisu; Bonnycastle, Lori L; Swift, Amy; Chines, Peter S; Bell, Jessica L; Mohan, Suresh; Whitman, Mary C; Staffieri, Sandra E; Elder, James E; Demer, Joseph L; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A; Brady, Angela F; Fenollar-Cortés, María; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H; Parker, Stephen C J.
Afiliación
  • Tenney AP; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Webb BD; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • de Boer E; Regeneron Pharmaceuticals, Tarrytown, NY, USA.
  • Garnai SJ; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
  • Barry BJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Ray T; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kosicki M; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Robson CD; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Zhang Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Collins TE; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Gelber A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Pratt BM; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, USA.
  • Fujiwara Y; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Varshney A; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Lek M; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Warburton PE; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Van Ryzin C; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
  • Lehky TJ; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Zalewski C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • King KA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Brewer CC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Thurm A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Snow J; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA.
  • Facio FM; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
  • Narisu N; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Bonnycastle LL; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Swift A; Center for Advanced Genomics Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Chines PS; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Bell JL; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Mohan S; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA.
  • Whitman MC; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA.
  • Staffieri SE; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA.
  • Elder JE; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, USA.
  • Demer JL; Office of the Clinical Director, National Institute of Mental Health, NIH, Bethesda, MD, USA.
  • Torres A; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Rachid E; Invitae Corporation, San Francisco, CA, USA.
  • Al-Haddad C; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Boustany RM; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Mackey DA; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Brady AF; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Fenollar-Cortés M; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Fradin M; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
  • Kleefstra T; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Padberg GW; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Raskin S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, and University of Melbourne, Melbourne, Victoria, Australia.
  • Sato MT; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Orkin SH; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Parker SCJ; Stein Eye Institute and Departments of Ophthalmology, Neurology, and Bioengineering, University of California, Los Angeles, Los Angeles, CA, USA.
Nat Genet ; 55(7): 1149-1163, 2023 07.
Article en En | MEDLINE | ID: mdl-37386251
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Parálisis Facial Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Parálisis Facial Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos