Meriel M. Mcentagart

St. George's University Of London
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 65 publications

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Journal: BMC medical genomics

Published: September 11, 2025

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Journal: Journal of medical genetics

Published: July 02, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

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

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

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

Published: November 05, 2024

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation

Published: May 25, 2024

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

Journal: European journal of human genetics : EJHG

Published: May 02, 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

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Journal: Journal of human genetics

Published: September 18, 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

The genomic landscape of familial glioma.

The genomic landscape of familial glioma.

Journal: Science advances

Published: April 28, 2023

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Journal: Nature communications

Published: November 14, 2022

Showing 1-12 of 65

Last Updated: 09/26/2026