Charles D. Madsen

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 · 469 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 · 313 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Sarah R. Senum, Ying Li, Katherine A. Benson et al. · The American Journal of Human Genetics · 2021 · 168 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease

Katharina Hopp, Émilie Cornec-Le Gall, Sarah R. Senum et al. · Kidney International · 2019 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease

Irina M. Sanchis, Shehbaz Shukoor, María V. Irazabal et al. · Clinical Journal of the American Society of Nephrology · 2019 · 76 citations · Full text

Medicine, Internal Medicine, Radiology +14