Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)Martin Hřebı́ček, Alexey V. Pshezhetsky, Alena Čížková et al.|The American Journal of Human Genetics|2006Cited by 96
<i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L. Stenton, Holger Prokisch, Markéta Tesařová et al.|Brain|2022Cited by 46
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, M Jirsa, Elżbieta Ciara et al.|PLoS ONE|2023Cited by 7
Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, M Jirsa, Elżbieta Ciara et al.|PLoS ONE|2025Cited by 0