Kathryn B. Garber

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel et al. · Journal of Inherited Metabolic Disease · 2012 · 88 citations · Full text

Medicine, Clinical Sciences, Endocrinology +4

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

Joseph F. Cubells, Elizabeth H. DeOreo, Philip D. Harvey et al. · American Journal of Medical Genetics Part A · 2011 · 87 citations

Medicine, Pharmacology, Pharmacotherapy +15

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Steven M. Harrison, Jill Dolinksy, Wenjie Chen et al. · Human Mutation · 2018 · 66 citations

Life Sciences, Bioinformatics, Biomedical Informatics +17

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Kathryn B. Garber, Lisa M. Vincent, John Alexander et al. · The American Journal of Human Genetics · 2016 · 54 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

Alekhya Narravula, Kathryn B. Garber, S. Hussain Askree et al. · Genetics in Medicine · 2016 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17