Helen M. Stuart

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

Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford et al. · Science Advances · 2022 · 198 citations · Full text

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

Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 135 citations · Full text

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

Stefanie Weber, Hölger Thiele, Mohammad R. Toliat et al. · The American Journal of Human Genetics · 2011 · 109 citations · Full text

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill Urquhart, Emma Hilton et al. · The American Journal of Human Genetics · 2010 · 108 citations · Full text

Urology, Genetic Disorder, Inherited Metabolic Disease +4

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

Asaf Vivante, Marc-Jens Kleppa, Julian Schulz et al. · The American Journal of Human Genetics · 2015 · 91 citations · Full text

Urological Research, Urology, Developmental Biology +11