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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.
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Standley J, Czeizel AE, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Field LL, Padilla CD, Cutiongco-de la Paz EM, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Deribew M, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Cornell RA, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: carlson jc. Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018472 Free PMC article.
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: carlson jc. Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. doi: 10.1093/hmg/ddw104. Epub 2016 Mar 30. Hum Mol Genet. 2016. PMID: 27033726 Free PMC article.
Exploring the genomic basis of early childhood caries: a pilot study.
Ballantine JL, Carlson JC, Ferreira Zandoná AG, Agler C, Zeldin LP, Rozier RG, Roberts MW, Basta PV, Luo J, Antonio-Obese ME, McNeil DW, Weyant RJ, Crout RJ, Slayton RL, Levy SM, Shaffer JR, Marazita ML, North KE, Divaris K. Ballantine JL, et al. Among authors: carlson jc. Int J Paediatr Dent. 2018 Mar;28(2):217-225. doi: 10.1111/ipd.12344. Epub 2017 Oct 23. Int J Paediatr Dent. 2018. PMID: 29057527 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 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.
227 results