Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Pengfei Liu, Vipulkumar Patel et al.|Genetics in Medicine|2018Cited by 88
A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesisAndrew H. Crosby, Aisha Al‐Khayat, Fathiya Al-Murshedi et al.|Brain|2016Cited by 78
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Emma L. Baple, Veronica Ferrucci et al.|Brain|2017Cited by 75
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Emma L. Baple, Fatema Al-Salmi et al.|Brain|2022Cited by 37