Curtis R. Coughlin

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 219 citations · Full text

Genetics, Pathology, Molecular Genetics +18

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer et al. · The American Journal of Human Genetics · 2013 · 130 citations · Full text

Systems Biology, Genetic Disorder, Medicine +6

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer et al. · Annals of Neurology · 2015 · 106 citations · Full text

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri et al. · Molecular Genetics and Metabolism · 2012 · 104 citations · Full text

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist et al. · Genetics in Medicine · 2016 · 97 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Genetic Disorder +8