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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J, Gervais A, Bizien L, Materna M, Harmant C, Roux M, Hawley NL, Weeks DE, McGarvey ST, Sandoval K, Barberena-Jonas C, Quinto-Cortés CD, Hagelberg E, Mentzer AJ, Robson K, Coulibaly B, Seeleuthner Y, Bigio B, Li Z, Uzé G, Pellegrini S, Lorenzo L, Sbihi Z, Latour S, Besnard M, Adam de Beaumais T, Jacqz Aigrain E, Béziat V, Deka R, Esera Tulifau L, Viali S, Reupena MS, Naseri T, McNaughton P, Sarkozy V, Peake J, Blincoe A, Primhak S, Stables S, Gibson K, Woon ST, Drake KM, Hill AVS, Chan CY, King R, Ameratunga R, Teiti I, Aubry M, Cao-Lormeau VM, Tangye SG, Zhang SY, Jouanguy E, Gray P, Abel L, Moreno-Estrada A, Minster RL, Quintana-Murci L, Wood AC, Casanova JL. Bastard P, et al. Among authors: reupena ms. J Exp Med. 2022 Jun 6;219(6):e20220028. doi: 10.1084/jem.20220028. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442418 Free PMC article.
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
Minster RL, Hawley NL, Su CT, Sun G, Kershaw EE, Cheng H, Buhule OD, Lin J, Reupena MS, Viali S, Tuitele J, Naseri T, Urban Z, Deka R, Weeks DE, McGarvey ST. Minster RL, et al. Among authors: reupena ms. Nat Genet. 2016 Sep;48(9):1049-1054. doi: 10.1038/ng.3620. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455349 Free PMC article.
Evolutionary history of modern Samoans.
Harris DN, Kessler MD, Shetty AC, Weeks DE, Minster RL, Browning S, Cochrane EE, Deka R, Hawley NL, Reupena MS, Naseri T; Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; McGarvey ST, O'Connor TD. Harris DN, et al. Among authors: reupena ms. Proc Natl Acad Sci U S A. 2020 Apr 28;117(17):9458-9465. doi: 10.1073/pnas.1913157117. Epub 2020 Apr 14. Proc Natl Acad Sci U S A. 2020. PMID: 32291332 Free PMC article.
Exploring the Paradoxical Relationship of a Creb 3 Regulatory Factor Missense Variant With Body Mass Index and Diabetes Among Samoans: Protocol for the Soifua Manuia (Good Health) Observational Cohort Study.
Hawley NL, Pomer A, Rivara AC, Rosenthal SL, Duckham RL, Carlson JC, Naseri T, Reupena MS, Selu M, Lupematisila V, Unasa F, Vesi L, Fatu T, Unasa S, Faasalele-Savusa K, Wetzel AI, Soti-Ulberg C, Prescott AT, Siufaga G, Penaia C, To SB, LaMonica LC, Lameko V, Choy CC, Crouter SE, Redline S, Deka R, Kershaw EE, Urban Z, Minster RL, Weeks DE, McGarvey ST. Hawley NL, et al. Among authors: reupena ms. JMIR Res Protoc. 2020 Jul 23;9(7):e17329. doi: 10.2196/17329. JMIR Res Protoc. 2020. PMID: 32706746 Free PMC article.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE; Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group; Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. Simon MT, et al. Among authors: reupena ms. Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28. Am J Med Genet A. 2021. PMID: 33112498 Free PMC article.
73 results