Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
对450名肛门直肠畸形患者进行全基因组致病拷贝数变异鉴定
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01216-5
Fabian, Julia; Dworschak, Gabriel C; Waffenschmidt, Lea; Schierbaum, Luca; Bendixen, Charlotte; Heilmann-Heimbach, Stefanie; Sivalingam, Sugirthan; Buness, Andreas; Schwarzer, Nicole; Boemers, Thomas M; Schmiedeke, Eberhard; Neser, Jörg; Leonhardt, Johannes; Kosch, Ferdinand; Weih, Sandra; Gielen, Helen Maya; Hosie, Stuart; Kabs, Carmen; Palta, Markus; Märzheuser, Stefanie; Bode, Lena Marie; Lacher, Martin; Schäfer, Frank-Mattias; Stehr, Maximilian; Knorr, Christian; Ure, Benno; Kleine, Katharina; Rolle, Udo; Zaniew, Marcin; Phillip, Grote; Zwink, Nadine; Jenetzky, Ekkehart; Reutter, Heiko; Hilger, Alina C