Geralyn Creadon‐Swindell

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 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer et al. · Annals of Neurology · 2015 · 109 citations · Full text

Life Sciences, Neurology, Neuroscience +17

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 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in <i>ALDH7A1</i>

Gunter Scharer, Chad Brocker, Vasilis Vasiliou et al. · Journal of Inherited Metabolic Disease · 2010 · 84 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, <i>CARS2,</i> lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich et al. · Journal of Medical Genetics · 2015 · 81 citations · Full text

Life Sciences, Genetics, Neurology +17