Pavlína Plevová

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson et al. · European Journal of Human Genetics · 2021 · 127 citations · Full text

Medicine, Genetics, Nephrology +17

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations

Vera Krutilkova, Marie Trková, Julie Fleitz et al. · European Journal of Cancer · 2005 · 98 citations

Life Sciences, Genetics, Oncology +16

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Lachlan A. Jolly, Lam Son Nguyen, Deepti Domingo et al. · Human Molecular Genetics · 2015 · 65 citations · Full text

Life Sciences, Genetics, Neuroscience +17

STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic

Pavlína Plevová, Martina Paprskarova, Petra Tvrda et al. · Otology & Neurotology · 2017 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Immunohistochemical detection of the hMLH1 and hMSH2 proteins in hereditary non-polyposis colon cancer and sporadic colon cancer.

Pavlína Plevová, Anna Křepelová, M Papezová et al. · PubMed · 2004 · 21 citations

Medicine, Oncology, Pathology +17