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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady, Lauren; Schrier Vergano, Samantha A; Hoffman, Trevor L; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz-Rogers, Laura; Chung, Wendy K; Sacharow, Stephanie; Immken, Ladonna L; Holder, Susan; Blackwell, Rebecca R; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, Anne-Marie; Rodan, Lance; de Vries, Bert B A; Kamsteeg, Erik Jan; Santos Simarro, Fernando; Palomares-Bralo, Maria; Brown, Natasha; Pais, Lynn; Ferrer, Alejandro; Klee, Eric W; Babovic-Vuksanovic, Dusica; Rhodes, Lindsay; Person, Richard; Begtrup, Amber; Keller-Ramey, Jennifer; Santiago-Sim, Teresa; Schnur, Rhonda E; Sweetser, David A; Gold, Nina B.
Afiliación
  • O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
  • Schrier Vergano SA; MGH Institute of Health Professions, Charlestown, Massachusetts, USA.
  • Hoffman TL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.
  • Sarco D; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
  • Cherny S; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.
  • Bryant E; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.
  • Schultz-Rogers L; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.
  • Chung WK; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.
  • Sacharow S; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Immken LL; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.
  • Holder S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Blackwell RR; Harvard Medical School, Boston, Massachusetts, USA.
  • Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Yusupov R; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Lecoquierre F; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Guerrot AM; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.
  • Rodan L; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • de Vries BBA; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
  • Kamsteeg EJ; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
  • Santos Simarro F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Palomares-Bralo M; Harvard Medical School, Boston, Massachusetts, USA.
  • Brown N; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Pais L; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Ferrer A; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
  • Klee EW; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
  • Babovic-Vuksanovic D; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
  • Rhodes L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Person R; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Begtrup A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Keller-Ramey J; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Santiago-Sim T; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Sweetser DA; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Gold NB; GeneDx, Inc., Gaithersburg, Maryland, USA.
Am J Med Genet A ; 188(9): 2750-2759, 2022 09.
Article en En | MEDLINE | ID: mdl-35543142
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos