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Emily O'Heir

4PUBLICATIONS

57CO-AUTHORS

Neurology and neuromuscular diseasesGene mappingEpigenetics (incl. genome methylation and epigenomics)Medical genetics (excl. cancer genetics)

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Publications (4)

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|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

|Oct 02, 2021

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

Andrea Gangfuß, Artur Czech, Andreas Hentschel

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Frequent Collaborators

2 joint publications

Kirsten A Donald

2 joint publications

Dong Li

1 joint publications

Andrea Gangfuß

1 joint publications

Beryl Royer-Bertrand

1 joint publications

Marine Jequier Gygax

1 joint publications

Katarina Cisarova

1 joint publications

Jill A Rosenfeld

1 joint publications

Jennifer A Bassetti

1 joint publications

David J Picketts

1 joint publications

Lindsay C Burrage

Frequent Collaborators

2 joint publications

Kirsten A Donald

2 joint publications

Dong Li

1 joint publications

Andrea Gangfuß

1 joint publications

Beryl Royer-Bertrand

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