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

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Publications (17)

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|Jul 02, 2026

A class of deep intronic <i>IGHMBP2</i> 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 <i>TTN-</i>related myopathy.

L H Hayes, S B Neuhaus, S Donkervoort

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Frequent Collaborators

13 joint publications

Carsten G Bonnemann

Sandra Donkervoort

Payam Mohassel

Rotem Orbach

Meganne E Leach

Daniel G MacArthur

Leslie H Hayes

Beryl B Cummings

Svetlana Gorokhova

Johann Böhm

Frequent Collaborators

13 joint publications

Carsten G Bonnemann

7 joint publications

Sandra Donkervoort

6 joint publications

Payam Mohassel

4 joint publications

Rotem Orbach