Petr Vyleťal

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe et al. · Nature Genetics · 2013 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon et al. · The American Journal of Human Genetics · 2009 · 167 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 159 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová et al. · Kidney International · 2006 · 127 citations

Life Sciences, Genetics, Molecular Genetics +6

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac et al. · Clinical Journal of the American Society of Nephrology · 2014 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +14