Published in Eur J Hum Genet on November 27, 2013
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Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet (2013) 0.98
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A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet (2015) 0.80
Cytokine secretion and NK cell activity in human ADAM17 deficiency. Oncotarget (2015) 0.79
Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency. Haematologica (2014) 0.79
A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet (2014) 0.78
Congenital valvular defects associated with deleterious mutations in the PLD1 gene. J Med Genet (2016) 0.77
Organic Solute Transporter-beta (SLC51B) Deficiency in Two Brothers with Congenital Diarrhea and Features of Cholestasis. Hepatology (2017) 0.75
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Am J Med Genet A (2017) 0.75
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet (2017) 0.75
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome. J Med Genet (2017) 0.75
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy. Neurogenetics (2017) 0.75