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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
- 2021
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Mark
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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- Contribution to journal › Article
- 2019
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Mark
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
(
- Contribution to journal › Article
- 2017
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Mark
Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations
(
- Contribution to journal › Article
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Mark
The pre-mRNA retention and splicing complex controls expression of the Mediator subunit Med20
(
- Contribution to journal › Article