Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

DOI Web Site Web Site Web Site 被引用文献13件 参考文献98件 オープンアクセス
  • Andrea M. Oza
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Marina T. DiStefano
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Sarah E. Hemphill
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Brandon J. Cushman
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Andrew R. Grant
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Rebecca K. Siegert
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Jun Shen
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Alex Chapin
    ARUP Laboratories Salt Lake City Utah
  • Nicole J. Boczek
    Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota
  • Lisa A. Schimmenti
    Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular BiologyMayo Clinic Rochester Minnesota
  • Jaclyn B. Murry
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Linda Hasadsri
    Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota
  • Kiyomitsu Nara
    Division of Hearing and Balance Research, National Institute of Sensory OrgansNational Hospital Organization Tokyo Medical Center Tokyo Japan
  • Margaret Kenna
    Department of Otolaryngology and Communication EnhancementBoston Children's Hospital Boston Massachusetts
  • Kevin T. Booth
    Molecular Otolaryngology and Renal Research Laboratories, Department of OtolaryngologyUniversity of Iowa Hospital and Clinics Iowa City Iowa
  • Hela Azaiez
    Molecular Otolaryngology and Renal Research Laboratories, Department of OtolaryngologyUniversity of Iowa Hospital and Clinics Iowa City Iowa
  • Andrew Griffith
    Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD)NIH Bethesda Maryland
  • Karen B. Avraham
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of NeuroscienceTel Aviv University Tel Aviv Israel
  • Hannie Kremer
    Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and BehaviourRadboud University Medical Center Nijmegen The Netherlands
  • Heidi L. Rehm
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Sami S. Amr
    Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
  • Ahmad N. Abou Tayoun
    The Children's Hospital of Philadelphia Philadelphia Pennsylvania

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