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- 2023
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Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
- 2022
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Mark
Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
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- Contribution to journal › Article
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Mark
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
(
- Contribution to journal › Article
- 2021
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Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
(
- Contribution to journal › Article
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Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
(
- Contribution to journal › Article