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Page 1
Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, Cowan QT, Bruck PT, Mercader K, Alotaibi M, Long T, Hall JE, Moya EA, Bauk MA, Reeves JJ, Kong MC, Salem RM, Vizcardo-Galindo G, Macarlupu JL, Figueroa-Mujíca R, Bermudez D, Corante N, Gaio E, Fox KP, Salomaa V, Havulinna AS, Murray AJ, Malhotra A, Powel FL, Jain M, Komor AC, Cavalleri GL, Huff CD, Villafuerte FC, Simonson TS. Lawrence ES, et al. Among authors: bohlender rj. Sci Adv. 2024 Feb 9;10(6):eadj5661. doi: 10.1126/sciadv.adj5661. Epub 2024 Feb 9. Sci Adv. 2024. PMID: 38335297 Free PMC article.
Evolutionary history of Tibetans inferred from whole-genome sequencing.
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. Hu H, et al. PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28448578 Free PMC article.
Early history of Neanderthals and Denisovans.
Rogers AR, Bohlender RJ, Huff CD. Rogers AR, et al. Among authors: bohlender rj. Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):9859-9863. doi: 10.1073/pnas.1706426114. Epub 2017 Aug 7. Proc Natl Acad Sci U S A. 2017. PMID: 28784789 Free PMC article.
Host genetic effects in pneumonia.
Chen HH, Shaw DM, Petty LE, Graff M, Bohlender RJ, Polikowsky HG, Zhong X, Kim D, Buchanan VL, Preuss MH, Shuey MM, Loos RJF, Huff CD, Cox NJ, Bastarache JA, Bastarache L, North KE, Below JE. Chen HH, et al. Among authors: bohlender rj. Am J Hum Genet. 2021 Jan 7;108(1):194-201. doi: 10.1016/j.ajhg.2020.12.010. Epub 2020 Dec 13. Am J Hum Genet. 2021. PMID: 33357513 Free PMC article.
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD. Yu Y, et al. Among authors: bohlender rj. HGG Adv. 2021 Dec 10;3(1):100078. doi: 10.1016/j.xhgg.2021.100078. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047863 Free PMC article.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Among authors: bohlender rj. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809
12 results