Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosisNatalia Dominik, J. Louise Jones, Cecilia Perini et al.|Brain|2023Cited by 71
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathyAlistair T. Pagnamenta, Emma L. Baple, Rauan Kaiyrzhanov et al.|Brain|2020Cited by 55
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 and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Rita Horváth, Emily O’Connor et al.|Nature Communications|2023Cited by 30