CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

por Walsh, Tom, Casadei, Silvia, Munson, Katherine M, Eng, Mary, Mandell, Jessica B, Gulsuner, Suleyman, King, Mary-Claire
Publicado 2021

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

por Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
Publicado 2016