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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter.
Afiliação
  • Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.
  • Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.
  • Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.
  • Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.
  • Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.
  • Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
  • Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
  • Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.
  • Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.
  • Klosowska A; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France.
  • Fieg E; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, 80-210, Poland.
  • Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.
  • Mallebranche C; Harvard Medical School, Boston, MA, 02115, USA.
  • Alban Z; Brigham and Women's Hospital, Boston, MA, 02115, USA.
  • Aldinger KA; Harvard Medical School, Boston, MA, 02115, USA.
  • Ritter D; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France.
  • Macnamara E; Service de génétique, CHU d'Angers, Angers, 49933, France.
  • Sullivan B; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.
  • Herriges J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
  • Alaimo JT; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Helbig C; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Ellis CA; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.
  • van Eyk C; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.
  • Gecz J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.
  • Farrugia D; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
  • Osei-Owusu I; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA.
  • Adès L; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.
  • van den Boogaard MJ; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.
  • Fuchs S; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta.
  • Bakker J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Duran K; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia.
  • Dawson ZD; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.
  • Lindsey A; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Huang H; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.
  • Baldridge D; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.
  • Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • Grant BD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • Raizen D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • van Haaften G; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.
  • Pak SC; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.
  • Rehmann H; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • van Hasselt P; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.
Hum Mol Genet ; 32(21): 3063-3077, 2023 10 17.
Article em En | MEDLINE | ID: mdl-37552066
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Megalencefalia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Animals / Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Megalencefalia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Animals / Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article