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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, Héla Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, John H. Greinwald, Jeffrey T. Holt, Makoto Hosoya, Un‐Kyung Kim, Ian D. Krantz, Suzanne M. Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morin, Cynthia C. Morton, Hideki Mutai, Arti Pandya, Richard J. Smith, Mustafa Tekin, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang

2021Genetics in Medicine43 citationsDOIOpen Access PDF

Topics & Concepts

Hearing lossDiseaseSequence (biology)MedicineAudiologyBioinformaticsGeneticsComputational biologyPediatricsBiologyInternal medicineGenomics and Rare DiseasesHearing, Cochlea, Tinnitus, GeneticsBRCA gene mutations in cancer
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss | Litcius