Virginia E. Clowes

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Published: September 16, 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

Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant.

Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant.

Journal: Journal of medical genetics

Published: October 04, 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

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics

Published: April 29, 2024

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Journal: Human mutation

Published: March 14, 2024

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Journal: Ophthalmic genetics

Published: January 25, 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry

Published: April 05, 2022

The Phenotypic Continuum of ATP1A3-Related Disorders.

The Phenotypic Continuum of ATP1A3-Related Disorders.

Journal: Neurology

Published: December 13, 2021

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Journal: American journal of medical genetics. Part A

Published: September 30, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026