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

Author:

Oza Andrea M.12ORCID,DiStefano Marina T.13,Hemphill Sarah E.1,Cushman Brandon J.1,Grant Andrew R.1,Siegert Rebecca K.1,Shen Jun134,Chapin Alex5,Boczek Nicole J.6,Schimmenti Lisa A.7,Murry Jaclyn B.1,Hasadsri Linda6,Nara Kiyomitsu8,Kenna Margaret23,Booth Kevin T.910,Azaiez Hela9,Griffith Andrew11,Avraham Karen B.12,Kremer Hannie13,Rehm Heidi L.131415ORCID,Amr Sami S.134ORCID,Abou Tayoun Ahmad N.1617ORCID,

Affiliation:

1. Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts

2. Department of Otolaryngology and Communication EnhancementBoston Children's Hospital Boston Massachusetts

3. Harvard Medical School Boston Massachusetts

4. Department of PathologyBrigham & Women's Hospital Boston Massachusetts

5. ARUP Laboratories Salt Lake City Utah

6. Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota

7. Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular BiologyMayo Clinic Rochester Minnesota

8. Division of Hearing and Balance Research, National Institute of Sensory OrgansNational Hospital Organization Tokyo Medical Center Tokyo Japan

9. Molecular Otolaryngology and Renal Research Laboratories, Department of OtolaryngologyUniversity of Iowa Hospital and Clinics Iowa City Iowa

10. The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of MedicineUniversity of Iowa Iowa City Iowa

11. Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD)NIH Bethesda Maryland

12. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of NeuroscienceTel Aviv University Tel Aviv Israel

13. Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and BehaviourRadboud University Medical Center Nijmegen The Netherlands

14. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

15. The Broad Institute of MIT and Harvard Cambridge Massachusetts

16. The Children's Hospital of Philadelphia Philadelphia Pennsylvania

17. The University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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