Phenotypic heterogeneity of genomic disorders and rare copy-number variants
基因组疾病和罕见拷贝数变异的表型异质性
期刊:New England Journal of Medicine
影响因子:78.5
doi:10.1056/NEJMoa1200395
Girirajan, Santhosh; Rosenfeld, Jill A; Coe, Bradley P; Parikh, Sumit; Friedman, Neil; Goldstein, Amy; Filipink, Robyn A; McConnell, Juliann S; Angle, Brad; Meschino, Wendy S; Nezarati, Marjan M; Asamoah, Alexander; Jackson, Kelly E; Gowans, Gordon C; Martin, Judith A; Carmany, Erin P; Stockton, David W; Schnur, Rhonda E; Penney, Lynette S; Martin, Donna M; Raskin, Salmo; Leppig, Kathleen; Thiese, Heidi; Smith, Rosemarie; Aberg, Erika; Niyazov, Dmitriy M; Escobar, Luis F; El-Khechen, Dima; Johnson, Kisha D; Lebel, Robert R; Siefkas, Kiana; Ball, Susie; Shur, Natasha; McGuire, Marianne; Brasington, Campbell K; Spence, J Edward; Martin, Laura S; Clericuzio, Carol; Ballif, Blake C; Shaffer, Lisa G; Eichler, Evan E