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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Qi, Cai; Feng, Irena; Costa, Ana Rita; Pinto-Costa, Rita; Neil, Jennifer E; Caluseriu, Oana; Li, Dong; Ganetzky, Rebecca D; Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjærsgaard; Bupp, Caleb; Muraresku, Colleen Clarke; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Brites, Pedro; Bhoj, Elizabeth J; Hill, Robert Sean; Falk, Marni J; Hakonarson, Hakon; Kahle, Kristopher T; Sousa, Monica M; Walsh, Christopher A; Zhang, Xiaochang.
Afiliación
  • Qi C; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Feng I; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Costa AR; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal.
  • Pinto-Costa R; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal.
  • Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA.
  • Caluseriu O; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.
  • Li D; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Hansen LK; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Bupp C; Medical Genetics, Helen DeVos Children's Hospital, Grand Rapids, MI.
  • Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Ruan X; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Kang B; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Hu K; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Zhong R; Department of Human Genetics, The University of Chicago, Chicago, IL.
  • Brites P; Neurolipid Biology, Instituto de Inovação e Investigação em Saúde, and Instituto de Biologia Molecular e Celular (IBMC), University of Porto, Porto, Portugal.
  • Bhoj EJ; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Hill RS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA.
  • Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Hakonarson H; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Kahle KT; Departments of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT.
  • Sousa MM; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal. Electronic address: msousa@ibmc.up.pt.
  • Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA. Electronic address: christopher.walsh@childrens.harvard.edu.
  • Zhang X; Department of Human Genetics, The University of Chicago, Chicago, IL; The Neuroscience Institute, The University of Chicago, Chicago, IL. Electronic address: xczhang@uchicago.edu.
Genet Med ; 24(2): 319-331, 2022 02.
Article en En | MEDLINE | ID: mdl-34906466
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hidrocefalia / Discapacidad Intelectual Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hidrocefalia / Discapacidad Intelectual Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel