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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo, Kathie J; Rexach, Jessica E; Lee, Hane; Petty, Lauren E; Perlman, Susan; Valera, Juliana M; Deignan, Joshua L; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E; Jhangiani, Shalini N; Coban-Akdemir, Zeynep H; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B; Hassin-Baer, Sharon; Poke, Gemma; Neas, Katherine; Geschwind, Michael D; Grody, Wayne W; Gibbs, Richard; Geschwind, Daniel H; Lupski, James R; Below, Jennifer E; Nelson, Stanley F; Fogel, Brent L.
Affiliation
  • Ngo KJ; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Rexach JE; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Petty LE; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Perlman S; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Valera JM; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Deignan JL; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Mao Y; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Aker M; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Posey JE; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Coban-Akdemir ZH; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Boerwinkle E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Muzny D; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Nelson AB; Human Genetics Center, University of Texas Health Science Center, Houston, Texas.
  • Hassin-Baer S; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Poke G; Department of Neurology, UCSF Memory and Aging Center, University of California, San Francisco, California.
  • Neas K; Department of Neurology, Chaim Sheba Medical Center, Movement Disorders Institute, Tel-Hashomer, Israel.
  • Geschwind MD; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Grody WW; Genetic Health Service NZ, Central Hub, Wellington Hospital, Wellington, New Zealand.
  • Gibbs R; Genetic Health Service NZ, Central Hub, Wellington Hospital, Wellington, New Zealand.
  • Geschwind DH; Department of Neurology, UCSF Memory and Aging Center, University of California, San Francisco, California.
  • Lupski JR; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Below JE; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Nelson SF; Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
  • Fogel BL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Hum Mutat ; 41(2): 487-501, 2020 02.
Article in En | MEDLINE | ID: mdl-31692161
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Full text: 1 Database: MEDLINE Main subject: Cerebellar Ataxia / Exome / Exome Sequencing / Nervous System Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Cerebellar Ataxia / Exome / Exome Sequencing / Nervous System Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article