Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

by Helene Puehringer, Hossein Najmabadi, Hai Yang Law, Walter Krugluger, Vip Viprakasit, Serge Pissard, Erol Baysal, Ali Taher, Chantal Farra, Amein Al-Ali, Suad Al-Ateeq, Christian Oberkanins
Published 2018

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