Gemma Louise Carvill

23PUBLICATIONS
128CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthNeonatologyDevelopmental genetics (incl. sex determination)
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Publications (23)

|Jul 21, 2026
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.

|Jul 09, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

|Apr 29, 2026
RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar

|Jan 21, 2026
Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.

Daniel T Kashima, Esther Yoon, Gemma L Carvill

|Jul 01, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Sarah M Brooker, Maria Novelli, Robert Coukos

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Frequent Collaborators

4 joint publications

Ingrid E Scheffer

4 joint publications

Jeffrey D Calhoun

3 joint publications

Heather C Mefford

3 joint publications

Jill A Rosenfeld