Stanislav Kmoch

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Evita van de Steeg, Viktor Stránecký, Hana Hartmannová et al. · Journal of Clinical Investigation · 2012 · 385 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Kai‐Uwe Eckardt, Seth L. Alper, Corinne Antignac et al. · Kidney International · 2015 · 362 citations

Medicine, Internal Medicine, Nephrology +13

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

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

Moran Dvela‐Levitt, Maria Kost‐Alimova, Maheswarareddy Emani et al. · Cell · 2019 · 201 citations · Full text

Life Sciences, Molecular Biology, Pathology +13