- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | 1. lékařská fakulta
- Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies2023 | 1. lékařská fakulta
- Klasifikace zárodečných variant identifikovaných při genetickém vyšetření nádorové predispozice – konsenzus konzorcia CZECANCA2023 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia2022 | 1. lékařská fakulta
- Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases2019 | 3. lékařská fakulta
- Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies2022 | 2. lékařská fakulta
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
- Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA22023 | 1. lékařská fakulta