Diana L. Kolbe

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer et al. · Human Genetics · 2016 · 588 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla et al. · BioMed Research International · 2016 · 56 citations · Full text

Medicine, Genetics, Neurology +13

Differential Analysis of Ovarian and Endometrial Cancers Identifies a Methylator Phenotype

Diana L. Kolbe, Julie A. DeLoia, Patricia Porter‐Gill et al. · PLoS ONE · 2012 · 46 citations · Full text

Medicine, Genetics, Oncology +16

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla et al. · Brain and Development · 2016 · 41 citations

Medicine, Neurology, Nutritional Sciences +10

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Mallory R. Tollefson, Rose A. Gogal, Amy Weaver et al. · Human Genetics · 2023 · 20 citations · Full text

Life Sciences, Bioinformatics, Genetics +15