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List of works by Jonathan M Downie

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population

scientific article

Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants

scientific article published on 14 September 2016

Evolutionary history of Tibetans inferred from whole-genome sequencing.

scientific article

Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression

scientific article

Genomic characterization of pediatric B-lymphoblastic lymphoma and B-lymphoblastic leukemia using formalin-fixed tissues.

scientific article published on 13 December 2016

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

scientific article

The evolving genetic risk for sporadic ALS.

scientific article published on 22 June 2017

VPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia.

scientific article

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