Christina M. Heyer

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

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

Christina M. Heyer, Jamie L. Sundsbak, Kaleab Z. Abebe et al. · Journal of the American Society of Nephrology · 2016 · 182 citations · Full text

Medicine, Genetics, Radiology +17

Imaging-Based Diagnosis of Autosomal Dominant Polycystic Kidney Disease

York Pei, Young‐Hwan Hwang, John Conklin et al. · Journal of the American Society of Nephrology · 2014 · 174 citations · Full text

Medicine, Nephrology, Radiology +17

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

Young‐Hwan Hwang, John Conklin, Winnie Chan et al. · Journal of the American Society of Nephrology · 2015 · 160 citations · Full text

Medicine, Genetics, Molecular Genetics +16