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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias, Kerith-Rae; Carlston, Colleen M; Blok, Laura E R; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N; Friedman, Jennifer; Pappas, John G; Rabin, Rachel; Nowak, Catherine B; Douglas, Jessica; Wilson, Theodore E; Guillen Sacoto, Maria J; Mullegama, Sureni V; Palculict, Timothy Blake; Kirk, Edwin P; Pinner, Jason R; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P; Slavotinek, Anne M; Voineagu, Irina; Carey, John C; Buckley, Michael F; Schenck, Annette; Harvey, Robert J; Roscioli, Tony.
Afiliación
  • Dias KR; Neuroscience Research Australia, Sydney, New South Wales, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
  • Carlston CM; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • De Hayr L; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia.
  • Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Evans CA; Neuroscience Research Australia, Sydney, New South Wales, Australia; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.
  • Bayrak-Toydemir P; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT; Molecular Genomics, ARUP Laboratories, University of Utah School of Medicine, University of Utah, Salt Lake City, UT.
  • Htun S; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
  • Zhu Y; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.
  • Ma A; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia; Specialty of Genomic Medicine, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
  • Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
  • Moorwood C; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Stals K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Bainbridge MN; Rady Children's Institute of Genomic Medicine, Rady Children's Hospital, San Diego, CA.
  • Friedman J; Rady Children's Institute of Genomic Medicine, Rady Children's Hospital, San Diego, CA; Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA.
  • Pappas JG; Department of Pediatrics, Clinical Genetic Services, NYU Grossman School of Medicine, NYU Langone Health, New York, NY.
  • Rabin R; Department of Pediatrics, Clinical Genetic Services, NYU Grossman School of Medicine, NYU Langone Health, New York, NY.
  • Nowak CB; The Feingold Center for Children, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Douglas J; The Feingold Center for Children, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Wilson TE; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, Indianapolis, IN.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, MD.
  • Mullegama SV; GeneDx, Gaithersburg, MD.
  • Palculict TB; GeneDx, Gaithersburg, MD.
  • Kirk EP; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney,
  • Pinner JR; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Edwards M; Hunter Genetics, Hunter New England Health, New Lambton, New South Wales, Australia; School of Medicine, Western Sydney University, Penrith, New South Wales, Australia.
  • Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Graziano C; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Dingmann B; Medical Genetics Department, Seattle Children's Hospital, Seattle, WA.
  • Glass I; Medical Genetics Department, Seattle Children's Hospital, Seattle, WA.
  • Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Research, St. Jude Children's Hospital, Memphis, TN.
  • Shimoji T; Department of Neurosurgery, Okinawa Pref. Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Okinawa Central Hospital, Okinawa, Japan.
  • Suzuki T; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Yamakawa K; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Institute of Human Genetics, Heidelberg University, Heidelberg University Hospital, Heidelberg, Germany.
  • Slavotinek AM; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
  • Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
  • Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT.
  • Buckley MF; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia.
  • Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Harvey RJ; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia.
  • Roscioli T; Neuroscience Research Australia, Sydney, New South Wales, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wa
Genet Med ; 24(9): 1952-1966, 2022 09.
Article en En | MEDLINE | ID: mdl-35916866
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Australia