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- 2024
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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
- 2023
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2022
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Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
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Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
- 2021
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Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
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- Contribution to journal › Article
- 2020
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Mark
Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation
2020) In The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 39(4). p.473-473(
- Contribution to journal › Published meeting abstract
- 2018
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Mark
Systematics for types and effects of DNA variations
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- Contribution to journal › Scientific review
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Mark
Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering
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- Contribution to journal › Article
- 2017
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Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
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Mark
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
(
- Contribution to journal › Article