Kimberly M Ezell

5PUBLICATIONS
58CO-AUTHORS
Medical biochemistry - lipidsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNanomedicine
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Publications (5)

|Apr 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

|Jan 07, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.

Athira Sivadas, Katelyn Moore, Kimberly Ezell

|Aug 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Russell Stewart, Kimberly M Ezell, Deanna S Bell

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Mar 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Kimberly M Ezell, Rory J Tinker, Yutaka Furuta

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Frequent Collaborators

3 joint publications

Thomas Cassini

3 joint publications

Yutaka Furuta

2 joint publications

Rory J Tinker

1 joint publications

T Andrew Burrow