Jamie M. Ellingford

Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 77 publications

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.

Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.

Journal: Journal of medical genetics

Published: October 10, 2025

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 08, 2025

Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project.

Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project.

Journal: EBioMedicine

Published: September 29, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Regional nonsense constraint offers biological and clinical insights into genetic disease.

Regional nonsense constraint offers biological and clinical insights into genetic disease.

Journal: Nature communications

Published: June 23, 2025

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Journal: Nature communications

Published: June 03, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina.

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina.

Journal: medRxiv : the preprint server for health sciences

Published: May 02, 2025

Showing 1-12 of 77

Last Updated: 09/26/2026