Veronique Bolduc

6PUBLICATIONS
104CO-AUTHORS
Gene and molecular therapyCancer geneticsReaction engineering (excl. nuclear reactions)Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Apr 08, 2024
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.

Véronique Bolduc, Fady Guirguis, Berit Lubben

|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Apr 08, 2024
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Véronique Bolduc, Katherine Sizov, Astrid Brull

|Apr 03, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi

|Nov 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Sandra Donkervoort, Niklas Krause, Mykola Dergai

|Apr 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen

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Frequent Collaborators

5 joint publications

Carsten G Bönnemann

3 joint publications

Sandra Donkervoort

2 joint publications

Beryl B Cummings

2 joint publications

Rotem Orbach