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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker, Stephanie A; Lawlor, James M J; Hiatt, Susan M; Thompson, Michelle L; Latner, Donald R; Finnila, Candice R; Bowling, Kevin M; Bonnstetter, Zachary T; Bonini, Katherine E; Kelly, Nicole R; Kelley, Whitley V; Hurst, Anna C E; Rashid, Salman; Kelly, Melissa A; Nakouzi, Ghunwa; Hendon, Laura G; Bebin, E Martina; Kenny, Eimear E; Cooper, Gregory M.
  • Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Bowling KM; Washington University School of Medicine, St. Louis, MO.
  • Bonnstetter ZT; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Kelly NR; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Hurst ACE; University of Alabama in Birmingham, Birmingham, AL.
  • Rashid S; University of Alabama in Birmingham, Birmingham, AL.
  • Kelly MA; HudsonAlpha Clinical Services Lab, Huntsville, AL.
  • Nakouzi G; HudsonAlpha Clinical Services Lab, Huntsville, AL.
  • Hendon LG; University of Mississippi Medical Center, Jackson, MS.
  • Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
  • Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.
Genet Med ; 25(8): 100884, 2023 08.
Article en En | MEDLINE | ID: mdl-37161864
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Tipo de estudio: Diagnostic_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Tipo de estudio: Diagnostic_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article