Siekierska A, et al. (2019) Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun 10(1):708 PMID:30755616
Spiegel R, et al. (2012) Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet 90(3):518-23 PMID:22405087
Nousbeck J, et al. (2008) Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet 82(5):1114-21 PMID:18439547
Raben N, et al. (1995) Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. Am J Hum Genet 56(1):131-41 PMID:7825568