Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2Qing Zhou, Troy R. Torgerson, Wanxia Li Tsai et al.|New England Journal of Medicine|2014Cited by 889
Treatment Strategies for Deficiency of Adenosine Deaminase 2Amanda K. Ombrello, Daniel L. Kastner, Jing Qin et al.|New England Journal of Medicine|2019Cited by 195
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao‐Tuan Chao, Laurel A. Donnell‐Fink, Mariska Davids et al.|The American Journal of Human Genetics|2016Cited by 122
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena‐Raluca Nicoli, Braden Boone, Mary Weston et al.|The American Journal of Human Genetics|2019Cited by 97
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Paolo Moretti, Kirsty McWalter et al.|Genetics in Medicine|2020Cited by 49