Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Nicholas Wood, Heba Morsy et al.|Nature Communications|2024Cited by 43
Biallelic <i>BORCS8</i> variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Juan S. Bonifacino, Reza Maroofian et al.|Brain|2023Cited by 23
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, John C. Ambrose, Yijing Zhou et al.|Nature Communications|2023Cited by 23
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Hagar Mor‐Shaked, Kaisa Teele Oja et al.|The American Journal of Human Genetics|2023Cited by 17
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng‐Jia Lin, Gaurav K. Varshney, Barbara Vona et al.|Genome Medicine|2023Cited by 14