Sian Ellard

14PUBLICATIONS
93CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthFairness, accountability, transparency, trust and ethics of computer systemsEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)
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Publications (14)

|Aug 06, 2026
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

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

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|Sep 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Sian Ellard, Sian Morgan, Sarah L Wynn

|Mar 16, 2022
SavvyCNV: Genome-wide CNV calling from off-target reads.

Thomas W Laver, Elisa De Franco, Matthew B Johnson

|Aug 10, 2021
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice.

Gregor Sachse, Elizabeth Haythorne, Peter Proks

|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Anne Schänzer, Melanie T Achleitner, Dietrich Trümbach

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Frequent Collaborators

4 joint publications

Thomas W Laver

4 joint publications

Sarah E. Flanagan

4 joint publications

Matthew Wakeling

3 joint publications

Elisa De Franco