Publications

Journal: Journal of Medical Genetics

2019

• Victor Murcia Pieńkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczałuba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, Maciej Sykulski, ANNA BIERNACKA, Agnieszka Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosińska, Paweł Krajewski, Jennifer Castańeda, Ewa Obersztyn, Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin , Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski, 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, Journal of Medical Genetics, 56 (2) 2019, p. 104-112. See in PBN