Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
在下一代测序时代,评估脑白质营养不良的相对频率并提出携带者筛查建议
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.61641
Schmidt, Johanna L; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M; Kirwin, Susan; Krock, Bryan; Lee, Hane; Deignan, Joshua L; Westemeyer, Maggie A; Subaran, Ryan L; Thiffault, Isabelle; Tsai, Ellen A; Fang, Terry; Helman, Guy; Vanderver, Adeline