Associated Papers
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
Ahram DF et al.
Journal of the American Society of Nephrology : Jasn, 2023
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Beaman GM et al.
Frontiers in Genetics, 2022
Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.
Roberts NA et al.
Advances in Experimental Medicine and Biology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Urinary tract effects of HPSE2 mutations.
Stuart HM et al.
Journal of the American Society of Nephrology : Jasn, 2015
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
Bulum B et al.
Nephron, 2015
Mutations in HPSE2 cause urofacial syndrome.
Daly SB et al.
American Journal of Human Genetics, 2010
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