Sian L. Ellard

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 317 publications

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal: Journal of medical genetics

Published: January 22, 2026

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 27, 2025

Final analysis of the ALTTO trial: adjuvant trastuzumab in sequence or in combination with lapatinib in patients with HER2-positive early breast cancer [BIG 2-06/NCCTG N063D (Alliance)].

Final analysis of the ALTTO trial: adjuvant trastuzumab in sequence or in combination with lapatinib in patients with HER2-positive early breast cancer [BIG 2-06/NCCTG N063D (Alliance)].

Journal: ESMO open

Published: July 15, 2024

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Journal: Journal of medical genetics

Published: July 09, 2024

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

Journal: Nature medicine

Published: June 19, 2024

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Journal: EMBO molecular medicine

Published: April 05, 2024

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Journal: American journal of human genetics

Published: November 12, 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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 30, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics

Published: April 20, 2023

Primate-specific ZNF808 is essential for pancreatic development in humans.

Primate-specific ZNF808 is essential for pancreatic development in humans.

Journal: Nature genetics

Published: February 14, 2023

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved].

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved].

Journal: NIHR open research

Published: August 08, 2022

Showing 1-12 of 317

Last Updated: 09/26/2026