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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz, Alexander M; VanCoillie, Rachel; Vansickle, Elizabeth A; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Guillen Sacoto, Maria J; Si, Yue; Wentzensen, Ingrid M; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, André; Argilli, Emanuela; Sherr, Elliott H; Aldinger, Kimberly A; Dobyns, William B; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A; O'Heir, Emily; Moody, Shade; Kim, Katherine H; Burton, Barbara K; Yoon, Grace; Campo, Miguel Del; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L; Gordon, Patricia L; Prokop, Jeremy W; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.
Afiliação
  • Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu.
  • VanCoillie R; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI.
  • Vansickle EA; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI.
  • Carere DA; GeneDx, Gaithersburg, MD.
  • Withrow K; GeneDx, Gaithersburg, MD.
  • Torti E; GeneDx, Gaithersburg, MD.
  • Juusola J; GeneDx, Gaithersburg, MD.
  • Millan F; GeneDx, Gaithersburg, MD.
  • Person R; GeneDx, Gaithersburg, MD.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, MD.
  • Si Y; GeneDx, Gaithersburg, MD.
  • Wentzensen IM; GeneDx, Gaithersburg, MD.
  • Pugh J; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD; Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
  • Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA.
  • Sherr EH; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA.
  • Dobyns WB; Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Brunet T; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hoefele J; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany.
  • Wagner M; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Ge
  • Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Mignot C; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Heide S; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.
  • Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.
  • O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Moody S; Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX.
  • Kim KH; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Burton BK; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Campo MD; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA.
  • Masser-Frye D; Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA.
  • Kozenko M; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
  • Parkinson C; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
  • Sell SL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA.
  • Gordon PL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA.
  • Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI.
  • Karaa A; Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
  • Bupp C; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. Electronic address: Caleb.Bupp@spectrumhealth.org.
  • Raby BA; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Division of Pulmonary and Critical Care Medicine, Department of Medic
Genet Med ; 24(10): 2065-2078, 2022 10.
Article em En | MEDLINE | ID: mdl-35980381
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosina não Muscular Tipo IIB / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosina não Muscular Tipo IIB / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article