William Gahl

20PUBLICATIONS
212CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesChild and adolescent developmentGenomicsAutoimmunity
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Publications (20)

|May 26, 2026
A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.

|Mar 24, 2026
Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.

Supphakorn Rakwongkhachon, Monnat Pongpanich, Chalurmpon Srichomthong

|Aug 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorder.

Ria L Dinsdale, Thomas R Middendorf, Deborah Disilvestre

|Jul 02, 2025
An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report.

Zoe Wolfenson, Daniel Benavides, Connor J Lewis

|May 02, 2025
Brain Age Prediction in Type II GM1 Gangliosidosis.

Connor J Lewis, Selby I Chipman, Precilla D'Souza

|Sep 18, 2024
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Sebastian Ochoa, Amy P Hsu, Andrew J Oler

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Frequent Collaborators

5 joint publications

May Christine V Malicdan

5 joint publications

Ellen Macnamara

5 joint publications

Cynthia Tifft

4 joint publications

Prashant Sharma