Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders
Authors: Victor Murcia Pienkowski , Marzena Kucharczyk , Marlena Młynek , Krzysztof Szczałuba Małgorzata Rydzanicz , Barbara Poszewiecka, Agata Skórka Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk Anna Walczak, Joanna Kosińska, Paweł Krajewski Jennifer Castaneda, Ewa Obersztyn Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin , Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
Published in: Journal of Medical Genetics(), Wydawca:BMJ PUBLISHING GROUP
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q1