H. Stuart

发表

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

D. Smedley, D. Sherwood, R. O’Keefe, 2022, Science advances.

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

E. A. McKenzie, W. Newman, W. Yue, 2022, Frontiers in Genetics.

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

I. V. van Rooij, G. Kristiansen, W. Newman, 2019, American journal of human genetics.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Richard S. Lee, Amita Sharma, E. Mancini, 2015, American journal of human genetics.

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Michael J. Randles, A. Woolf, B. Kerr, 2015, Pediatric Nephrology.

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

W. Newman, A. Woolf, R. Thuret, 2014, Human molecular genetics.

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

D. Smedley, D. Sherwood, Eric Hastie, 2021, bioRxiv.

Genetics of human congenital urinary bladder disease

W. Newman, A. Woolf, Helen M. Stuart, 2014, Pediatric Nephrology.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Peter Nürnberg, Peter Frommolt, Janine Altmüller, 2011, American journal of human genetics.

Mutations in HPSE2 cause urofacial syndrome.

W. Reardon, B. Gener, R. Kammerer, 2010, American journal of human genetics.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Urofacial Syndrome: A genetic model to understand human urinary tract abnormalities.

H. Stuart, 2015 .

Mutations in HPSE 2 Identified in UFS Patients Family Ethnicity Nucleotide Change Exons

W. Reardon, B. Gener, W. Newman, 2010 .

LRIG2 mutations cause urofacial syndrome.

Jonathan E. Dickerson, B. Gener, W. Newman, 2013, American journal of human genetics.

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

H. Cordell, W. Newman, A. Woolf, 2020, Kidney international reports.

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

Michael J. Randles, R. Henriksson, W. Newman, 2019, Kidney international.

Urinary tract effects of HPSE2 mutations.

H. Cordell, D. Barton, W. Newman, 2015, Journal of the American Society of Nephrology : JASN.

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

R. Lennon, R. Preston, Helen M. Stuart, 2017, Pediatric Nephrology.

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

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Journal of Medical Genetics.

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

W. Newman, A. Woolf, I. Mushtaq, 2019, American journal of medical genetics. Part A.

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

W. Newman, S. Bhaskar, A. Woolf, 2019, Clinical genetics.

Abstracts of the 51st Annual ESPN Meeting, Antalya, October 2018

Carmine, Pape, W. Newman, 2018, Pediatric nephrology (Berlin, West).

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation

W. Newman, A. Woolf, N. Roberts, 2014, Pediatric Nephrology.

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Roberto L. Flores, T. Boggon, R. Lifton, 2022, Human Genetics.

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

S. McKee, H. Kingston, A. Tee, 2011, European Journal of Human Genetics.

Predicting congenital renal tract malformation genes using machine learning

Kathryn E. Hentges, A. Doig, B. Keavney, 2023, Scientific reports.