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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
2. lékařská fakulta
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Publikace bez příslušnosti k fakultě
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Ústřední knihovna
publication
Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies
2022 |
2. lékařská fakulta
publication
A rare large duplication of MLH1 identified in Lynch syndrome
2021 |
Lékařská fakulta v Plzni
publication
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies
2023 |
1. lékařská fakulta
publication
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
2018 |
2. lékařská fakulta
publication
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
2019 |
1. lékařská fakulta
publication
Rare deleterious germline variants and risk of lung cancer
2021 |
2. lékařská fakulta
publication
Prot2HG: a database of protein domains mapped to the human genome
2020 |
2. lékařská fakulta
publication
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
2019 |
1. lékařská fakulta