Publications by authors named "Virginia Clowes"

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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.
Bethany Stafford-Smith, Morgan Daniel, Michelle Peter, Jana Gurasashvili, Rashida Baptiste, Virginia Clowes

Genet Med· December 2025

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Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Susan Walker, David J Bunyan, Huw B Thomas, Yesim Kesim, Christopher J Kershaw, Virginia Clowes

Genet Med· September 2025

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"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Bethany Stafford-Smith, Jana Gurasashvili, Michelle Peter, Morgan Daniel, Meena Balasubramanian, Virginia Clowes

Eur J Hum Genet· August 2025

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Homozygous Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
Virginia Clowes, Xiaolun Ma, Hannah Maude, Catherine Dennis, Qing Gao

Hum Mutat· April 2025

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Hiding in plain sight: a partial deletion of exon 7 undetectable by MLPA is a Nepali founder variant.
Virginia Clowes, Jenny C Taylor, Alistair T Pagnamenta

J Med Genet· January 2025

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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl, Anaïs Begemann, Virginia Clowes

Am J Hum Genet· September 2024

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Virginia Clowes

Mol Psychiatry· February 2023

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Individuals with heterozygous variants in the Wnt-signalling pathway gene delineate a phenotype characterized by isolated coloboma and variable expressivity.
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Virginia Clowes

Ophthalmic Genet· December 2022

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The Phenotypic Continuum of -Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Virginia Clowes

Neurology· October 2022

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Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Anna Durkin, Shadi Albaba, Andrew E Fry, Jenny E Morton, Andrew Douglas, Virginia Clowes

Am J Med Genet A· July 2020

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Pathogenicity and selective constraint on variation near splice sites.
Jenny Lord, Giuseppe Gallone, Patrick J Short, Jeremy F McRae, Holly Ironfield, Virginia Clowes

Genome Res· February 2019

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Virginia E Clowes

J Med Genet· February 2018

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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Virginia Clowes

PLoS Genet· August 2017

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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
Elizabeth K Bancroft, Elizabeth C Page, Elena Castro, Hans Lilja, Andrew Vickers, Virginia E Clowes

Eur Urol· September 2014

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Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.
Adam Jackson, Alan Fryer, Virginia Clowes, Jill Clayton-Smith

Clin Dysmorphol· April 2014

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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
Claire A Martin, Virginia E Clowes, John P Cooper

BMJ Case Rep· February 2014

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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
David A Parry, Clare V Logan, Alexander P A Stegmann, Zakia A Abdelhamed, Alistair Calder, Virginia Clowes

Am J Hum Genet· December 2013

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Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.
Emma Killick, Richard Morgan, Francesca Launchbury, Elizabeth Bancroft, Elizabeth Page, Virginia Clowes

Sci Rep· October 2013

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Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
Vincent Timmerman, Virginia E Clowes, Evan Reid

Exp Neurol· August 2013

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The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.
Hayley C Whitaker, Zsofia Kote-Jarai, Helen Ross-Adams, Anne Y Warren, Johanna Burge, Virginia Clowes

PLoS One· October 2010

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Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Thomas L Edwards, Virginia E Clowes, Hilda T H Tsang, James W Connell, Christopher M Sanderson

Biochem J· September 2009

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MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Virginia E Clowes, Charles Shaw-Smith, Helen Simpson, Steve G Ball, Carlo L Acerini

Clin Endocrinol (Oxf)· April 2008

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