Helen M. Stuart

Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

Detection of Alport gene variants in children and young people with persistent haematuria.

Detection of Alport gene variants in children and young people with persistent haematuria.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 12, 2024

Predicting congenital renal tract malformation genes using machine learning.

Predicting congenital renal tract malformation genes using machine learning.

Journal: Scientific reports

Published: March 03, 2023

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

Journal: Human genetics

Published: May 19, 2022

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.

Journal: Science advances

Published: May 18, 2022

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Journal: Frontiers in genetics

Published: March 15, 2022

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Journal: Journal of medical genetics

Published: June 29, 2020

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Journal: Kidney international reports

Published: April 27, 2020

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Journal: Clinical genetics

Published: April 15, 2019

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Journal: American journal of medical genetics. Part A

Published: October 08, 2018

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Journal: American journal of human genetics

Published: September 21, 2018

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Journal: Kidney international

Published: July 19, 2018

Showing 1-12 of 21

Last Updated: 09/26/2026