Frances J Evesson

4PUBLICATIONS
35CO-AUTHORS
Infant and child healthBioinformatic methods developmentNeurology and neuromuscular diseasesCancer genetics
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Publications (4)

|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|May 27, 2024
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant

|Mar 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Rhett G Marchant, Samantha J Bryen, Melanie Bahlo

|Mar 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen

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Frequent Collaborators

3 joint publications

Sandra T Cooper

2 joint publications

Rhett G Marchant

2 joint publications

Leigh B Waddell

1 joint publications

Michaela Yuen