Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Louis J. Ptáček, Annarita Scardamaglia et al.|Movement Disorders|2024Cited by 49
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Nicholas Wood, Henriette Aksnes et al.|Nature Communications|2024Cited by 43
Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial gliaY. Nakamura, Kazuhiro Haginoya, Issei S. Shimada et al.|Brain|2024Cited by 11
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial functionFrancesca Magrinelli, Güneş Kızıltan, Christelle Tesson et al.|medRxiv|2024Cited by 6