Emily C. Oates

High St
Randwick, NSW 2031, Australia

Last Updated: 09/26/2026

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Found 32 publications

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: December 15, 2025

Deep learning of 777 K bulk transcriptomes reveals human-mouse gene conservation beyond DNA sequence similarity.

Deep learning of 777 K bulk transcriptomes reveals human-mouse gene conservation beyond DNA sequence similarity.

Journal: Communications biology

Published: April 01, 2025

GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks.

GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks.

Journal: Genome biology

Published: October 11, 2024

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Journal: European heart journal

Published: September 18, 2024

Post-transcriptional regulation supports the homeostatic expression of mature RNA.

Post-transcriptional regulation supports the homeostatic expression of mature RNA.

Journal: Briefings in bioinformatics

Published: August 30, 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

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

Journal: Circulation. Genomic and precision medicine

Published: September 06, 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

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Journal: Frontiers in neurology

Published: October 05, 2022

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

Journal: Human molecular genetics

Published: June 10, 2022

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Journal: Genome biology

Published: March 30, 2022

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics

Published: March 29, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026