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Burden analysis
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Studium
publication
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
2021 |
2. lékařská fakulta
publication
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
2020 |
1. lékařská fakulta
publication
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study
2015 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
2015 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 |
2. lékařská fakulta
publication
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
2019 |
Ústřední knihovna, 2. lékařská fakulta
publication
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
2017 |
Ústřední knihovna, 2. lékařská fakulta
publication
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
2018 |
2. lékařská fakulta