J
Jonathan M. Downie
Researcher at University of Utah
Publications - 21
Citations - 423
Jonathan M. Downie is an academic researcher from University of Utah. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 7, co-authored 17 publications receiving 354 citations. Previous affiliations of Jonathan M. Downie include Harvard University.
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Journal ArticleDOI
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Alexandra M. Lopes,Kenneth I. Aston,Emma E. Thompson,Filipa Carvalho,João Gonçalves,Ni Huang,Rune Matthiesen,Michiel J. Noordam,Inés Quintela,Avinash Ramu,Catarina M. Seabra,Amy B. Wilfert,Juncheng Dai,Jonathan M. Downie,Susana Fernandes,Xuejiang Guo,Jiahao Sha,António Amorim,Alberto Barros,Angel Carracedo,Zhibin Hu,Matthew E. Hurles,Sergey I. Moskovtsev,Carole Ober,Darius A. Paduch,Joshua D. Schiffman,Peter N. Schlegel,Mário Sousa,Douglas T. Carrell,Donald F. Conrad +29 more
TL;DR: The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human spermatogenic failure and identifies other recurrent CNVs as potential causes of idiopathic azoospermia.
Journal ArticleDOI
Evolutionary history of Tibetans inferred from whole-genome sequencing.
Hao Hu,Nayia Petousi,Gustavo Glusman,Yao Yu,Ryan James Bohlender,Tsewang Tashi,Jonathan M. Downie,Jared C. Roach,Amy M. Cole,Felipe R. Lorenzo,Alan R. Rogers,Mary E. Brunkow,Gianpiero L. Cavalleri,Leroy Hood,Sama M. Alpatty,Josef T. Prchal,Lynn B. Jorde,Peter A. Robbins,Tatum S. Simonson,Chad D. Huff +19 more
TL;DR: A detailed history of demography and natural selection of this population of Tibetans is inferred and evidence of population structure between the ancestral Han and Tibetan subpopulations as early as 44 to 58 thousand years ago, but with high rates of gene flow until approximately 9 thousands years ago.
Journal ArticleDOI
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.
Joshua D. Schiffman,Patrick D. Lorimer,Vladimir Rodic,Mona S. Jahromi,Jonathan M. Downie,Michael G. Bayerl,Jennifer N. Sanmann,Pamela A. Althof,Warren G. Sanger,Phillip Barnette,Sherrie L. Perkins,Rodney R. Miles +11 more
TL;DR: The results demonstrate that high‐resolution copy number analysis can be performed on archival lymphoma tissue specimens, which has significance for the study of rare diseases.
Journal ArticleDOI
Shared acquired genomic changes in zebrafish and human T-ALL
Lynnie A. Rudner,Kim H. Brown,Kimberly P. Dobrinski,Diana F. Bradley,Martha Iveth Garcia,Alexandra C.H. Smith,Jonathan M. Downie,Nathan D. Meeker,A T Look,James R. Downing,Alejandro Gutierrez,Charles G. Mullighan,Joshua D. Schiffman,Joshua D. Schiffman,Charles Lee,Nikolaus S. Trede,J K Frazer +16 more
TL;DR: Zebrafish and human T-ALLs are similar at the genomic level, and are governed by factors that have persisted throughout evolution, suggesting a conserved role for these loci in T-all transformation across species.
Journal ArticleDOI
The evolving genetic risk for sporadic ALS.
Summer Gibson,Jonathan M. Downie,Spyridoula Tsetsou,Julie Feusier,Karla P. Figueroa,Mark B. Bromberg,Lynn B. Jorde,Stefan M. Pulst +7 more
TL;DR: By incorporating variant pathogenicity as well as variant frequency, it is demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates.