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Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Nolan, Daniel K; Chaudhari, Bimal; Franklin, Samuel J; Wijeratne, Saranga; Pfau, Ruthann; Mihalic Mosher, Theresa; Crist, Erin; McBride, Kim L; White, Peter; Wilson, Richard K; Hickey, Scott E; Koboldt, Daniel C.
Affiliation
  • Nolan DK; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Chaudhari B; Department of Anthropology, The Ohio State University, Columbus, Ohio, USA.
  • Franklin SJ; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Wijeratne S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Pfau R; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Mihalic Mosher T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Crist E; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • McBride KL; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • White P; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Wilson RK; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Hickey SE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Clin Genet ; 100(6): 775-776, 2021 12.
Article in En | MEDLINE | ID: mdl-34476810
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Rare Diseases / Alleles / Genetic Association Studies Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Infant Language: En Year: 2021 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Rare Diseases / Alleles / Genetic Association Studies Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Infant Language: En Year: 2021 Type: Article