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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza, Andrea M; DiStefano, Marina T; Hemphill, Sarah E; Cushman, Brandon J; Grant, Andrew R; Siegert, Rebecca K; Shen, Jun; Chapin, Alex; Boczek, Nicole J; Schimmenti, Lisa A; Murry, Jaclyn B; Hasadsri, Linda; Nara, Kiyomitsu; Kenna, Margaret; Booth, Kevin T; Azaiez, Hela; Griffith, Andrew; Avraham, Karen B; Kremer, Hannie; Rehm, Heidi L; Amr, Sami S; Abou Tayoun, Ahmad N.
Affiliation
  • Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • DiStefano MT; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.
  • Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Cushman BJ; Harvard Medical School, Boston, Massachusetts.
  • Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Siegert RK; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Shen J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Chapin A; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Boczek NJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Schimmenti LA; Harvard Medical School, Boston, Massachusetts.
  • Murry JB; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.
  • Hasadsri L; ARUP Laboratories, Salt Lake City, Utah.
  • Nara K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Kenna M; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota.
  • Booth KT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Azaiez H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Griffith A; 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, Massachusetts.
  • Kremer H; Harvard Medical School, Boston, Massachusetts.
  • Rehm HL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa.
  • Amr SS; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa.
  • Abou Tayoun AN; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa.
Hum Mutat ; 39(11): 1593-1613, 2018 11.
Article de En | MEDLINE | ID: mdl-30311386
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Génome humain / Dépistage génétique / Perte d'audition Type d'étude: Guideline Limites: Humans Pays/Région comme sujet: America do norte Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Génome humain / Dépistage génétique / Perte d'audition Type d'étude: Guideline Limites: Humans Pays/Région comme sujet: America do norte Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays de publication: États-Unis d'Amérique