Łukasz Kępczyński

Detection of bladder cancer in urine sediments by a hypermethylation panel of selected tumor suppressor genes

Michał Pietrusiński, Łukasz Kępczyński, Adam Jędrzejczyk et al. · Cancer Biomarkers · 2016 · 35 citations

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M. Reis, Davut Pehli̇van et al. · The American Journal of Human Genetics · 2022 · 23 citations · Full text

Neurodevelopmental Disorders, Neurobiology Of Disease, Developmental Biology +12

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska et al. · Frontiers in Genetics · 2021 · 14 citations · Full text

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Tomasz Zajkowski et al. · Journal of Applied Genetics · 2016 · 12 citations

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

Lena Rutkowska, Iwona Pinkier, Kinga Sałacińska et al. · Genes · 2022 · 12 citations · Full text