Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E. Schneeberger, Ashley Andrews, Fanny Kortüm et al.|Brain|2020Cited by 59
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 <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Henry Houlden, Reza Maroofian et al.|Brain|2022Cited by 42
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Esma Şengenç, Reza Maroofian et al.|Genetics in Medicine|2022Cited by 39
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G. Ghosh, Joseph G. Gleeson, Sangmoon Lee et al.|Genetics in Medicine|2020Cited by 37