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Page 1
A Polynesian-specific missense CETP variant alters the lipid profile.
Moors J, Krishnan M, Sumpter N, Takei R, Bixley M, Cadzow M, Major TJ, Phipps-Green A, Topless R, Merriman M, Rutledge M, Morgan B, Carlson JC, Zhang JZ, Russell EM, Sun G, Cheng H, Weeks DE, Naseri T, Reupena MS, Viali S, Tuitele J, Hawley NL, Deka R, McGarvey ST, de Zoysa J, Murphy R, Dalbeth N, Stamp L, Taumoepeau M, King F, Wilcox P, Rapana N, McCormick S, Minster RL, Merriman TR, Leask M. Moors J, et al. Among authors: carlson jc. HGG Adv. 2023 May 8;4(3):100204. doi: 10.1016/j.xhgg.2023.100204. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37250494 Free PMC article.
A missense variant in CREBRF is associated with taller stature in Samoans.
Carlson JC, Rosenthal SL, Russell EM, Hawley NL, Sun G, Cheng H, Naseri T, Reupena MS, Tuitele J, Deka R, McGarvey ST, Weeks DE, Minster RL. Carlson JC, et al. Am J Hum Biol. 2020 Nov;32(6):e23414. doi: 10.1002/ajhb.23414. Epub 2020 Mar 19. Am J Hum Biol. 2020. PMID: 32190945 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: carlson jc. JMIR Res Protoc. 2020 Jul 23;9(7):e17329. doi: 10.2196/17329. JMIR Res Protoc. 2020. PMID: 32706746 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand.
Russell EM, Carlson JC, Krishnan M, Hawley NL, Sun G, Cheng H, Naseri T, Reupena MS, Viali S, Tuitele J, Major TJ, Miljkovic I, Merriman TR, Deka R, Weeks DE, McGarvey ST, Minster RL. Russell EM, et al. Among authors: carlson jc. BMJ Open Diabetes Res Care. 2022 Feb;10(1):e002275. doi: 10.1136/bmjdrc-2021-002275. BMJ Open Diabetes Res Care. 2022. PMID: 35144939 Free PMC article.
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Wainschtein P, Jain D, Zheng Z; TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Cupples LA, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, Liu CT, Albert CM, Roden D, Chasman DI, Darbar D, Lloyd-Jones DM, Arnett DK, Regan EA, Boerwinkle E, Rotter JI, O'Connell JR, Yanek LR, de Andrade M, Allison MA, McDonald MN, Chung MK, Fornage M, Chami N, Smith NL, Ellinor PT, Vasan RS, Mathias RA, Loos RJF, Rich SS, Lubitz SA, Heckbert SR, Redline S, Guo X, Chen Y-I, Laurie CA, Hernandez RD, McGarvey ST, Goddard ME, Laurie CC, North KE, Lange LA, Weir BS, Yengo L, Yang J, Visscher PM. Wainschtein P, et al. Nat Genet. 2022 Mar;54(3):263-273. doi: 10.1038/s41588-021-00997-7. Epub 2022 Mar 7. Nat Genet. 2022. PMID: 35256806 Free PMC article.
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.
Kelly TN, Sun X, He KY, Brown MR, Taliun SAG, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, Guo X, Hwang SJ, de Vries PS, Gao Y, Moscati A, Nadkarni GN, Yanek LR, Elfassy T, Smith JA, Chung RH, Beitelshees AL, Patki A, Aslibekyan S, Blobner BM, Peralta JM, Assimes TL, Palmas WR, Liu C, Bress AP, Huang Z, Becker LC, Hwa CM, O'Connell JR, Carlson JC, Warren HR, Das S, Giri A, Martin LW, Craig Johnson W, Fox ER, Bottinger EP, Razavi AC, Vaidya D, Chuang LM, Chang YC, Naseri T, Jain D, Kang HM, Hung AM, Srinivasasainagendra V, Snively BM, Gu D, Montasser ME, Reupena MS, Heavner BD, LeFaive J, Hixson JE, Rice KM, Wang FF, Nielsen JB, Huang J, Khan AT, Zhou W, Nierenberg JL, Laurie CC, Armstrong ND, Shi M, Pan Y, Stilp AM, Emery L, Wong Q, Hawley NL, Minster RL, Curran JE, Munroe PB, Weeks DE, North KE, Tracy RP, Kenny EE, Shimbo D, Chakravarti A, Rich SS, Reiner AP, Blangero J, Redline S, Mitchell BD, Rao DC, Ida Chen YD, Kardia SLR, Kaplan RC, Mathias RA, He J, Psaty BM, Fornage M, Loos RJF, Correa A, Boerwinkle E, Rotter JI, Kooperberg C, Edwards TL, Abecasis GR, Zhu X, Levy D, Arnett DK, Morrison AC; Samoan Obesity, Lifestyle, and Genetic Adaptations Study (OLaGA) Gr… See abstract for full author list ➔ Kelly TN, et al. Among authors: carlson jc. Hypertension. 2022 Aug;79(8):1656-1667. doi: 10.1161/HYPERTENSIONAHA.122.19324. Epub 2022 Jun 2. Hypertension. 2022. PMID: 35652341 Free PMC article.
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function.
Blobner BM, Kirabo A, Kashlan OB, Sheng S, Arnett DK, Becker LC, Boerwinkle E, Carlson JC, Gao Y, Gibbs RA, He J, Irvin MR, Kardia SLR, Kelly TN, Kooperberg C, McGarvey ST, Menon VK, Montasser ME, Naseri T, Redline S, Reiner AP, Reupena MS, Smith JA, Sun X, Vaidya D, Viaud-Martinez KA, Weeks DE, Yanek LR, Zhu X; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*; Minster RL, Kleyman TR. Blobner BM, et al. Among authors: carlson jc. Hypertension. 2022 Nov;79(11):2573-2582. doi: 10.1161/HYPERTENSIONAHA.121.18513. Epub 2022 Oct 4. Hypertension. 2022. PMID: 36193739 Free PMC article.
227 results