Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genesXueya Zhou, Anna Jelinek, Irina Astrovskaya et al.|Nature Genetics|2022Cited by 475
Identification of an <i>Alu</i> element‐mediated deletion in the promoter region of <i><scp>GNE</scp></i> in siblings with <scp>GNE</scp> myopathyJennifer Garland, May Christine V. Malicdan, Joshi Stephen et al.|Molecular Genetics & Genomic Medicine|2017Cited by 22