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- 2020
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Mark
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
2020) In Genetics in Medicine(
- Contribution to journal › Article
- 2017
-
Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
- 2015
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Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
(
- Contribution to journal › Scientific review