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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

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Publications (26)

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|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 <i>POLR3K</i> 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

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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

2 joint publications

Elin Grundberg

2 joint publications

Tom Curran

2 joint publications

Jeffrey J Johnston

2 joint publications

Gregory J Pazour

2 joint publications

Maxime Cadieux-Dion

2 joint publications

Christian Gilissen

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

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