Monika Koudová

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

Heiko Witt, Miklós Sahin‐Tóth, Olfert Landt et al. · Nature Genetics · 2006 · 251 citations · Full text

Medicine, Biochemistry, Molecular Biology +8

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 146 citations

Life Sciences, Genetics, Molecular Genetics +11

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

Monika Koudová, E Seemanová, Martin Zenker · European Journal of Medical Genetics · 2009 · 52 citations

Life Sciences, Genetics, Molecular Genetics +8

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Klára Lhotová, Lenka Stolařová, Petra Zemánková et al. · Cancers · 2020 · 39 citations · Full text

Medicine, Genetics, Oncology +17