Frances J. Evesson

214 Hawkesbury Road
Sydney, NSW 2145, Australia

Last Updated: 09/26/2026

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Found 25 publications

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Journal: Acta neuropathologica

Published: March 29, 2026

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Journal: Neuromuscular disorders : NMD

Published: December 03, 2025

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Journal: Acta neuropathologica communications

Published: November 10, 2025

RNA variant assessment using transactivation and transdifferentiation.

RNA variant assessment using transactivation and transdifferentiation.

Journal: American journal of human genetics

Published: March 08, 2024

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Journal: Annals of clinical and translational neurology

Published: February 02, 2024

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Journal: European journal of human genetics : EJHG

Published: December 05, 2023

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology

Published: August 24, 2023

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Journal: Human molecular genetics

Published: January 08, 2023

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Journal: Clinical genetics

Published: August 31, 2022

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.

Journal: Acta neuropathologica communications

Published: August 17, 2022

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Journal: HGG advances

Published: April 20, 2022

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Journal: Neuropathology and applied neurobiology

Published: May 04, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026