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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen, Jun; Oza, Andrea M; Del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Wai Choy, Kwong; Cheng, Yen-Fu; Avraham, Karen B; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E; Grant, Andrew R; Siegert, Rebecca K; DiStefano, Marina T; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N.
Afiliação
  • Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. jshen5@bwh.harvard.edu.
  • Oza AM; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA. jshen5@bwh.harvard.edu.
  • Del Castillo I; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA. jshen5@bwh.harvard.edu.
  • Duzkale H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.
  • Matsunaga T; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Pandya A; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
  • Kang HP; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Mar-Heyming R; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Guha S; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Moyer K; University of North Carolina, Chapel Hill, NC, USA.
  • Lo C; Counsyl, South San Francisco, CA, USA.
  • Kenna M; Counsyl, South San Francisco, CA, USA.
  • Alexander JJ; Counsyl, South San Francisco, CA, USA.
  • Zhang Y; New York Genome Center, New York, NY, 10013, USA.
  • Hirsch Y; Counsyl, South San Francisco, CA, USA.
  • Luo M; Counsyl, South San Francisco, CA, USA.
  • Cao Y; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.
  • Wai Choy K; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Cheng YF; EGL Genetics/Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Avraham KB; ConsulGene, LLC, Jacksonville, FL, USA.
  • Hu X; Certer for Medical Genetics, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
  • Garrido G; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, USA.
  • Moreno-Pelayo MA; The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Greinwald J; The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Zhang K; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Zeng Y; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, China.
  • Brownstein Z; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Basel-Salmon L; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterinary Hospital, Taipei, Taiwan.
  • Davidov B; School of Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Frydman M; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Weiden T; Department of Biostatistics, Fairbanks School of Public Health and School of Medicine, Indiana University, Indianapolis, IN, USA.
  • Nagan N; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
  • Willis A; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Hemphill SE; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
  • Grant AR; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Siegert RK; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • DiStefano MT; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Amr SS; Certer for Medical Genetics, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
  • Rehm HL; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Abou Tayoun AN; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Genet Med ; 21(11): 2442-2452, 2019 11.
Article em En | MEDLINE | ID: mdl-31160754
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Perda Auditiva Tipo de estudo: Guideline / Observational_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 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: Conexinas / Perda Auditiva Tipo de estudo: Guideline / Observational_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article