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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.

Murcia Pienkowski V, Kucharczyk M, Mlynek M, Szczaluba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosinska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Smigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Ploski R. 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. J Med Genet. 2019 02; 56(2):104-112.

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