Author

Katie B. Williams

Observed names: Katie B Williams, Katie Beth Williams, Williams, Katie B.

Institution: University of Wisconsin–Madison

Observed institutions: Clinic for Special Children, University of Wisconsin–Madison, UW Health University Hospital

ORCID: 0000-0002-2356-7646

Observed ORCID: 0000-0002-2356-7646

OpenAlex ID: A5012689519

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

2020 · Kevin A. Strauss, Vincent J. Carson, et al. · Molecular Genetics and Metabolism · 169

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

2020 · Kevin A. Strauss, Katie B. Williams, et al. · Molecular Genetics and Metabolism · 68

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Genomic diagnostics within a medically underserved population: efficacy and implications

2017 · Kevin A. Strauss, Claudia Gonzaga-Jauregui, et al. · Genetics in Medicine · 61

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Characterization of intestinal phosphate absorption using a novel in vivo method

2007 · Katie Beth Williams, Hector F. DeLuca · American Journal of Physiology-Endocrinology and Metabolism · 50

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

2018 · Katie B Williams, Karlla W Brigatti, et al. · Human Molecular Genetics · 33

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

2022 · Siying Lin, Aida Sanchez-Bretaño, et al. · npj Genomic Medicine · 21

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No association between SCN9A and monogenic human epilepsy disorders

2020 · James Fasham, Joseph S. Leslie, et al. · PLoS Genetics · 19

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Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia

2017 · Devyani Chowdhury, Katie B. Williams, et al. · The Journal of Pediatrics · 11

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

2020 · Marcello Scala, Majid Mojarrad, et al. · Brain · 10

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Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities

2022 · Katie B. Williams, Michael R. Lasarev, et al. · Journal of Community Genetics · 9

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

2022 · Katie B. Williams, Michael Horst, et al. · BMC Cardiovascular Disorders · 9

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Newborn Pulse Oximetry for Infants Born Out-of-Hospital

2021 · Katie B. Williams, Michael Horst, et al. · PEDIATRICS · 5

2-Methylene-19-nor-20(S)-1α-hydroxy-bishomopregnacalciferol [20(S)-2MbisP], an analog of vitamin D3 [1,25(OH)2D3], does not stimulate intestinal phosphate absorption at levels previously shown to suppress parathyroid hormone

2008 · Katie B. Williams, Hector F. DeLuca · Steroids · 5

Telemedicine in the Amish and Mennonite communities of Wisconsin

2022 · Sara Zoran, Grace Anbouba, et al. · Journal of Community Genetics · 2

Diaminobutane (DAB) Dendrimers Are Potent Binders of Oral Phosphate

2008 · Katie B Williams, Katarzyna Barycka, et al. · Journal of Bone and Mineral Research · 2

Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community

2024 · Carly Eichten, Ashley Kuhl, et al. · Journal of Genetic Counseling · 1

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Neonatal Metabolic Crises

2019 · Katie B. Williams, Patrice K. Held, et al. · Clinics in Perinatology · 1

Two for One: Recurrent Symptoms, Delayed Diagnosis

2026 · Cris G. Ebby, Matthew D. Rasberry, et al. · Clinical Pediatrics

Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency

2025 · Grace E. Curry, Nicole L. Bertsch, et al. · Journal of Lipid Research

Works count: 21

Citation count: 476

H-index: 9

I10-index: 9