Katharina Hopp

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall et al. · The American Journal of Human Genetics · 2016 · 448 citations · Full text

Hepatology, Disease Mechanism, Medicine +9

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

Katharina Hopp, Christopher J. Ward, Cynthia J. Hommerding et al. · Journal of Clinical Investigation · 2012 · 433 citations · Full text

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Émilie Cornec-Le Gall, Rory J. Olson, Whitney Besse et al. · The American Journal of Human Genetics · 2018 · 302 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Sandro Rossetti, Vickie Kubly, Mark Consugar et al. · Kidney International · 2009 · 289 citations · Full text

Urology, Gene Dosage, Genetic Disorder +13

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

Katharina Hopp, Andrea G. Cogal, Eric J. Bergstralh et al. · Journal of the American Society of Nephrology · 2015 · 254 citations · Full text

Genetics, Genetic Epidemiology, Ph Diagnostics +19