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- 2020
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A structural variation reference for medical and population genetics
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- Contribution to journal › Article
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The mutational constraint spectrum quantified from variation in 141,456 humans
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- Contribution to journal › Article
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Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells
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- Contribution to journal › Article
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New generation genetic testing entering the clinic
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- Contribution to journal › Article
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Subclonal patterns in follow-up of acute myeloid leukemia combining whole exome sequencing and ultrasensitive IBSAFE digital droplet analysis
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- Contribution to journal › Article
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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
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- Contribution to journal › Article
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Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity : A multi-center study
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- Contribution to journal › Article
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The effect of LRRK2 loss-of-function variants in humans
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- Contribution to journal › Article
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Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for acute lymphoblastic leukemia and lymphoma in caucasian children
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- Contribution to journal › Article
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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