Concepedia
Statistics
Publications
8
Citations
405
H-Index
Active since
2007
Affiliations
Clinic for Special Children(Current)
Alfred I. duPont Hospital for Children
Akron Children's Hospital
WellSpan Health
University of Wisconsin–Madison
Katie B. Williams is an author at Clinic for Special Children specializing in genetics, medical genetics, and life sciences.
Publications per year
2007–2022
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 · 153 citations · Full text
Agriculture, Nutrition, Nutritional Sciences +17
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 · 62 citations · Full text
Medicine, Child Health, Pediatrics +16
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 · 59 citations · Full text
Life Sciences, Bioinformatics, Genetics +14
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 · 50 citations
Medicine, Biochemistry, Nutritional Sciences +14
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
Life Sciences, Genetics, Molecular Genetics +17
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