A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

by Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J.H. Smith, Jun Shen
Published 2022

Global implementation of genomic medicine: We are not alone

by Teri A. Manolio, Marc Abramowicz, Fahd Al-Mulla, Warwick Anderson, Rudi Balling, Adam C. Berger, Steven Bleyl, Aravinda Chakravarti, Wasun Chantratita, Rex L. Chisholm, Vajira H.W. Dissanayake, Michael Dunn, Victor J. Dzau, Bok Ghee Han, Tim Hubbard, Anne Kolbe, Bruce Korf, Michiaki Kubo, Paul Lasko, Erkki Leego, Surakameth Mahasirimongkol, Partha P. Majumdar, Gert Matthijs, Howard L. McLeod, Andres Metspalu, Pierre Meulien, Satoru Miyano, Yaakov Naparstek, P. Pearl O'Rourke, George P. Patrinos, Heidi L. Rehm, Mary V. Relling, Gad Rennert, Laura Lyman Rodriguez, Dan M. Roden, Alan R. Shuldiner, Sukdeb Sinha, Patrick Tan, Mats Ulfendahl, Robyn Ward, Marc S. Williams, John E.L. Wong, Eric D. Green, Geofrey S. Ginsburg
Published 2018