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- 2022
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Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
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- Contribution to journal › Article
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Germline Mutations in CIDEB and Protection against Liver Disease
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- Contribution to journal › Article
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Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
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- Contribution to journal › Article
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Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
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- Contribution to journal › Article
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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- Contribution to journal › Article
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The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
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- Contribution to journal › Article
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
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- Contribution to journal › Article
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Superficial CD34-Positive Fibroblastic Tumor : A Clinicopathologic, Immunohistochemical, and Molecular Study of 59 Cases
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- Contribution to journal › Article
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An annotated high-content fluorescence microscopy dataset with Hoechst 33342-stained nuclei and manually labelled outlines : Dataset record
2022)(
- Other contribution › Miscellaneous
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Mark
Calcium, Its Regulatory Hormones, and Their Causal Role on Blood Pressure : A Two-Sample Mendelian Randomization Study
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- Contribution to journal › Article