de novo balanced translocations

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
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

Journal of Medical Genetics Feb 2019, 56 (2) 104-112; DOI: 10.1136/jmedgenet-2018-105527

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de novo balanced translocations