Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T.A.; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora N.; Macarov, Michal; Davidov, Bella; Pappas, John Georgios; Rabin, Rachel Allison; Kenna, Margaret A.; Oza, Andrea M.; Lafferty, Katherine A.; Amr, Sami S.; Rehm, Heidi L.; Kolbe, Diana L.; Frees, Kathy L.; Nishimura, Carla J.; Luo, Minjie; Farra, Chantal G.; Morton, Cynthia Casson; Scher, Sholem Y.; Ekstein, Josef; Avraham, Karen B.; Smith, Richard J.H.; Shen, Jun
(Springer Nature, 2021)
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic ...