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- 2025
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Mark
PON-P3: Accurate Prediction of Pathogenicity of Amino Acid Substitutions
- Contribution to journal › Article
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Proteome‐Wide Analysis of Human Deletions
- Contribution to journal › Article
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Mark
Sequence-Based Prediction for Protein Solvent Accessibility
- Contribution to journal › Article
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Mark
ProToxin, a Predictor of Protein Toxicity
- Contribution to journal › Article
- 2024
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- Contribution to journal › Article
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
- Contribution to journal › Article
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Mark
There will always be variants of uncertain significance. Analysis of VUSs
- Contribution to journal › Article
- 2023
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Systematic errors in annotations of truncations, loss-of-function and synonymous variants
- Contribution to journal › Article
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Mark
VariBench, new variation benchmark categories and data sets
- Contribution to journal › Article
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Mark
Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
- Contribution to journal › Scientific review
