Holly Dubbs

6PUBLICATIONS
43CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Neurogenetics
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Publications (6)

|May 08, 2026
Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation.

|Mar 08, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Colin A Ellis, Juliette Copeland, Isabella Velez

|Dec 22, 2025
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Lara E Terry, Holly Dubbs, Kelly H Markwalter

|Aug 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

Isabel Haviland, Ralph D Hector, Lindsay C Swanson

|Jul 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li

|Jun 07, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Holly Dubbs, Xilma Ortiz-Gonzalez, Eric D Marsh

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Frequent Collaborators

1 joint publications

Isabel Haviland

1 joint publications

Silvia Russo

1 joint publications

Bernhard Suter

1 joint publications

Scott Demarest