Ghunwa Nakouzi

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang et al. · Molecular Genetics and Metabolism · 2012 · 117 citations

Life Sciences, Neurology, Neuroscience +14

Functional interactions between the LRP6 WNT co-receptor and folate supplementation

Jason D. Gray, Ghunwa Nakouzi, Bozena Slowinska-Castaldo et al. · Human Molecular Genetics · 2010 · 50 citations · Full text

Life Sciences, Developmental Biology, Nutritional Sciences +17

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt et al. · Genetics in Medicine · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity

Douglas S. Kerr, George Grahame, Ghunwa Nakouzi · Methods in molecular biology · 2011 · 17 citations

Life Sciences, Biochemistry, Molecular Biology +14

Reducing Sanger confirmation testing through false positive prediction algorithms

James Holt, Melissa Kelly, Brett Sundlof et al. · Genetics in Medicine · 2021 · 17 citations · Full text

Life Sciences, Bioinformatics, Genetics +17