Eleanor G. Seaby

Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 63 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Expanding the ABCA2-associated neurodevelopmental phenotype.

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Genome Sequencing for Diagnosing Rare Diseases.

Genome Sequencing for Diagnosing Rare Diseases.

Journal: The New England journal of medicine

Published: June 05, 2024

Modelling human genetic disorders in Xenopus tropicalis.

Modelling human genetic disorders in Xenopus tropicalis.

Journal: Disease models & mechanisms

Published: June 04, 2024

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Journal: medRxiv : the preprint server for health sciences

Published: February 08, 2024

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: December 08, 2023

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

Journal: Healthcare (Basel, Switzerland)

Published: November 05, 2023

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Journal: Genome medicine

Published: July 30, 2023

A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.

A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.

Journal: Genes

Published: July 17, 2023

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

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

Published: June 08, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026