Isabelle Thiffault

26PUBLICATIONS
128CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Genomics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (26)

|May 01, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

|Aug 22, 2025
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Akram Mokhtari, Jade Charbonneau, Valancy Miranda

|Apr 14, 2025
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Stefanie Perrier, Julia Macintosh, Agata D Misiaszek

|Mar 08, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.

Xiao Chen, Daniel Baker, Egor Dolzhenko

|Feb 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.

Monica H Wojcik, Robin D Clark, Abdallah F Elias

|Sep 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Craig Smail, Bing Ge, Marissa R Keever-Keigher

Pageof 5

Frequent Collaborators

8 joint publications

Tomi Pastinen

6 joint publications

Emily G Farrow

3 joint publications

Warren A Cheung

2 joint publications

Carol J Saunders