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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Spillmann, Rebecca C; Tan, Queenie K-G; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T; Bernstein, Jonathan A; Shashi, Vandana.
Affiliation
  • Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Reuter C; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Zastrow D; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Alkelai A; Institute for Genome Medicine, Columbia University Medical Center, New York, NY.
  • Baugh E; Institute for Genome Medicine, Columbia University Medical Center, New York, NY.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Wheeler MT; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine
  • Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address: vandana.shashi@duke.edu.
Genet Med ; 25(4): 100353, 2023 04.
Article in En | MEDLINE | ID: mdl-36481303
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases Type of study: Diagnostic_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: New Caledonia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases Type of study: Diagnostic_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: New Caledonia