A Reghan Foley

17PUBLICATIONS
134CO-AUTHORS
Medical devicesInfant and child healthNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Structural properties of condensed matter
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (17)

|Jul 02, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

|Feb 06, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

|Jul 15, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Rotem Orbach, Nunziata Maio, Russell J Butterfield

|Apr 03, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Feb 19, 2025
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.

L H Hayes, S B Neuhaus, S Donkervoort

Pageof 3

Frequent Collaborators

13 joint publications

Carsten G Bonnemann

7 joint publications

Sandra Donkervoort

6 joint publications

Payam Mohassel

4 joint publications

Rotem Orbach