Emily O'Heir

7PUBLICATIONS
107CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesFlight dynamicsGene mappingEpigenetics (incl. genome methylation and epigenomics)
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Publications (7)

|Oct 25, 2026
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.

|Oct 22, 2026
A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.

|Aug 27, 2026
Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Mar 01, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Ana Töpf, Dan Cox, Irina T Zaharieva

|Oct 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova

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Frequent Collaborators

3 joint publications

Anne O'Donnell-Luria

3 joint publications

Kirsten A Donald

2 joint publications

Sarah L Stenton

2 joint publications

Alan H Beggs