ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Autor: Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang

Publikováno v: Genetics in Medicine, 21, 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247

PurposeProper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of

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