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- 2021
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Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
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- Contribution to journal › Article
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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- Contribution to journal › Article
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Droplet digital PCR and mile-post analysis for the detection of F8 int1h inversions
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- Contribution to journal › Article
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Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing
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- Contribution to journal › Article
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Mark
Association of thyroid function with blood pressure and cardiovascular disease : A mendelian randomization
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- Contribution to journal › Article
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Mark
Common Susceptibility Loci for Male Breast Cancer
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- Contribution to journal › Article
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Pan-genomic sequencing reveals actionable cdkn2a/2b deletions and kataegis in anaplastic thyroid carcinoma
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- Contribution to journal › Article
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
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- Contribution to journal › Article
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Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome
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- Contribution to journal › Article
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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