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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel, Mayher J; DiStefano, Marina T; Oza, Andrea M; Hughes, Madeline Y; Wilcox, Emma H; Hemphill, Sarah E; Cushman, Brandon J; Grant, Andrew R; Siegert, Rebecca K; Shen, Jun; Chapin, Alex; Boczek, Nicole J; Schimmenti, Lisa A; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T; Avraham, Karen B; Kremer, Hannie; Griffith, Andrew J; Rehm, Heidi L; Amr, Sami S; Tayoun, Ahmad N Abou.
Afiliação
  • Patel MJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • DiStefano MT; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Oza AM; Precision Health Program, Geisinger, Danville, PA, USA.
  • Hughes MY; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
  • Wilcox EH; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.
  • Hemphill SE; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cushman BJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Grant AR; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
  • Siegert RK; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
  • Shen J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Chapin A; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Boczek NJ; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
  • Schimmenti LA; Harvard Medical School, Boston, MA, USA.
  • Nara K; ARUP Laboratories, Salt Lake City, UT, USA.
  • Kenna M; Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA.
  • Azaiez H; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
  • Booth KT; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Avraham KB; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.
  • Kremer H; Harvard Medical School, Boston, MA, USA.
  • Griffith AJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
  • Rehm HL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
  • Amr SS; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
  • Tayoun ANA; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Genet Med ; 23(11): 2208-2212, 2021 11.
Article em En | MEDLINE | ID: mdl-34230634
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Perda Auditiva Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Perda Auditiva Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Ano de publicação: 2021 Tipo de documento: Article