Katie B. Williams

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Kevin A. Strauss, Vincent J. Carson, Kyle Soltys et al. · Molecular Genetics and Metabolism · 2020 · 140 citations · Full text

Metabolic Disorder, Pathology, Metabolic Syndrome +19

Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A. Strauss, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti et al. · Genetics in Medicine · 2017 · 57 citations · Full text

Genetic Testing, Medicine, Genetics +9

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

Kevin A. Strauss, Katie B. Williams, Vincent J. Carson et al. · Molecular Genetics and Metabolism · 2020 · 57 citations · Full text

Neonatology, Brain Development, Striatal Degeneration +17

Characterization of intestinal phosphate absorption using a novel in vivo method

Katie B. Williams, Hector F. DeLuca · American Journal of Physiology-Endocrinology and Metabolism · 2007 · 49 citations

Nutrition, Gastroenterology, Digestive Tract +16

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Katie B. Williams, Karlla W. Brigatti, Erik G. Puffenberger et al. · Human Molecular Genetics · 2018 · 30 citations

Catalytic Domain, Genetics, Molecular Biology +18