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Jonathan M Downie, M.D., Ph.D.

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University of Utah School of Medicine, Salt Lake City, UTMD, PhD05/2019Medicine, Human Genetics
University of Utah, Salt Lake City, UTBS08/2009Biology

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Gibson SB, Downie JM, Tsetsou S, Feusier JE, Figueroa KP, Bromberg MB, Jorde LB, Pulst SM. The evolving genetic risk for sporadic ALS. Neurology. 2017 Jul 18; 89(3):226-233. PMID: 28642336.
    Citations: 8     Fields:    Translation:HumansCells
  2. Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD. Evolutionary history of Tibetans inferred from whole-genome sequencing. PLoS Genet. 2017 04; 13(4):e1006675. PMID: 28448578.
    Citations: 20     Fields:    Translation:Humans
  3. Meyer JA, Zhou D, Mason CC, Downie JM, Rodic V, Abromowitch M, Wistinghausen B, Termuhlen AM, Angiolillo AL, Perkins SL, Lones MA, Barnette P, Schiffman JD, Miles RR. Genomic characterization of pediatric B-lymphoblastic lymphoma and B-lymphoblastic leukemia using formalin-fixed tissues. Pediatr Blood Cancer. 2017 Jul; 64(7). PMID: 27957801.
    Citations: 1     Fields:    Translation:Humans
  4. Nance D, Campbell RA, Rowley JW, Downie JM, Jorde LB, Kahr WH, Mereby SA, Tolley ND, Zimmerman GA, Weyrich AS, Rondina MT. Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants. J Thromb Haemost. 2016 11; 14(11):2230-2240. PMID: 27629384.
    Citations:    Fields:    Translation:Humans
  5. Downie JM, Tashi T, Lorenzo FR, Feusier JE, Mir H, Prchal JT, Jorde LB, Koul PA. A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population. PLoS One. 2016; 11(8):e0160614. PMID: 27490348.
    Citations: 2     Fields:    Translation:Humans
  6. Mangum DS, Downie J, Mason CC, Jahromi MS, Joshi D, Rodic V, Müschen M, Meeker N, Trede N, Frazer JK, Zhou Y, Cheng C, Jeha S, Pui CH, Willman CL, Harvey RC, Hunger SP, Yang JJ, Barnette P, Mullighan CG, Miles RR, Schiffman JD. VPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia. Leukemia. 2014 Jan; 28(1):216-20. PMID: 23881307.
    Citations: 9     Fields:    Translation:Humans
  7. Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet. 2013 Mar; 9(3):e1003349. PMID: 23555275.
    Citations: 29     Fields:    Translation:HumansCells
  8. Schiffman JD, Lorimer PD, Rodic V, Jahromi MS, Downie JM, Bayerl MG, Sanmann JN, Althof PA, Sanger WG, Barnette P, Perkins SL, Miles RR. 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. Br J Haematol. 2011 Nov; 155(4):477-86. PMID: 21981616.
    Citations: 22     Fields:    Translation:HumansCells
  9. Rudner LA, Brown KH, Dobrinski KP, Bradley DF, Garcia MI, Smith AC, Downie JM, Meeker ND, Look AT, Downing JR, Gutierrez A, Mullighan CG, Schiffman JD, Lee C, Trede NS, Frazer JK. Shared acquired genomic changes in zebrafish and human T-ALL. Oncogene. 2011 Oct 13; 30(41):4289-96. PMID: 21552289.
    Citations: 20     Fields:    Translation:HumansAnimals
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.