Author
Montreal Neurological Institute and HospitalORCID 0009-0003-0938-1268Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
David Pellerin, Jean‐Loup Méreaux, Susana Boluda…·Bernard Brais
This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.
David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan
The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.
Céline Bonnet, David Pellerin, Virginie Roth…·Mathilde Renaud
The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.
Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa…·Guy Armand Rouleau
The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.