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Kidney International|March 20, 2019
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladderNeil A Roberts, Emma N Hilton, Filipa M Lopes, et al.
Elife|December 7, 2019
Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney diseaseDaniyal J Jafree, Dale Moulding, Maria Kolatsi-Joannou, et al.
American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.
Scientific Reports|January 10, 2018
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.
Scientific Reports|November 4, 2017
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.
The Journal of Pathology|August 23, 2024
Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney diseaseJennifer C Chandler, Daniyal J Jafree, Saif Malik, et al.
Nature Genetics|May 27, 2003
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix proteinLesley McGregor, Ville Makela, Susan M Darling, et al.
Frontiers in Genetics|July 11, 2022
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
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