Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Year: 2019
Type: article
Source: Genetics in Medicine
Authors: Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen B. Avraham, Xinhua Hu, Gema Garrido, Miguel A. Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun, Hela Azaiez, Kevin T. Booth, Richard J. Smith, Anne B. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Lu, Huijun Yuan, Hideki Mutai, Lisa Schimmenti
Institutions: Brigham and Women's Hospital, Harvard University, Boston Children's Hospital, Centre for Biomedical Network Research on Rare Diseases, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Cincinnati Children's Hospital Medical Center, Tokyo Medical Center, National Hospital Organization, University of North Carolina at Chapel Hill, New York Genome Center, Emory University, Guangdong Province Women and Children Hospital, Children's Hospital of Philadelphia, University of Pennsylvania, Chinese University of Hong Kong, Taipei Veterans General Hospital, National Yang Ming University, Rabin Medical Center, Indiana University Indianapolis, Tel Aviv University, Schneider Children's Medical Center, Sheba Medical Center, LabCorp (United States), Sequenom (United States), Broad Institute, Massachusetts General Hospital, Al Jalila Foundation, University of Miami, Western University, University of Iowa, Southwest Hospital, Mayo Clinic
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: bronze
Funders: National Institutes of Health, Instituto de Salud Carlos III, European Regional Development Fund, National Human Genome Research Institute, National Institute on Deafness and Other Communication Disorders, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute on Minority Health and Health Disparities
Awards: G2666831572, G3165597566, G3559709381, Better Outcomes for Children: Promoting Excellence in Healthcare Genomics to Inform Policy, MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juveni, G4193446334, Aplicación de la ultrasecuenciación del DNA (NGS) al estudio de las causas genéticas de las neuropatías auditivas y de otras hipoacusias no sindrómicas de herencia autosómica recesiva, Clinical Genome Resource, G610202642, Clinical Molecular Genetic Diagnosis of Hearing Loss, SEQuencing a Baby for an Optimal Outcome (SEQaBOO), G7994548261, Genomic Approaches to Discovery and Characterization of Genes for Inherited Hearing Loss, G8374761964, Búsqueda de nuevos genes, mecanismos moleculares y abordajes diagnósticos y terapéuticos en hipoacusias hereditarias postlocutivas (HHP), Cincinnati Training Program in Pediatric Rheumatology, Training Grant in Genetics
OpenAlex ID: W2951843383