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Filters: Keyword is Loss of Function Mutation [Clear All Filters]
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 10, 707 (2019).
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun 10, 708 (2019).
Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet 26, 330-339 (2018).
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet 25, 1335-1344 (2017).
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A 113, 11289-11293 (2016).