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