Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

346 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Among authors: rosenthal sl. 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.
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.
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: rosenthal sl. 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.
A murine model of the human CREBRFR457Q obesity-risk variant does not influence energy or glucose homeostasis in response to nutritional stress.
Kanshana JS, Mattila PE, Ewing MC, Wood AN, Schoiswohl G, Meyer AC, Kowalski A, Rosenthal SL, Gingras S, Kaufman BA, Lu R, Weeks DE, McGarvey ST, Minster RL, Hawley NL, Kershaw EE. Kanshana JS, et al. Among authors: rosenthal sl. PLoS One. 2021 Sep 14;16(9):e0251895. doi: 10.1371/journal.pone.0251895. eCollection 2021. PLoS One. 2021. PMID: 34520472 Free PMC article.
A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles.
Carlson JC, Krishnan M, Rosenthal SL, Russell EM, Zhang JZ, Hawley NL, Moors J, Cheng H, Dalbeth N, de Zoysa JR, Watson H, Qasim M, Murphy R, Naseri T, Reupena MS, Viali S, Stamp LK, Tuitele J, Kershaw EE, Deka R, McGarvey ST, Merriman TR, Weeks DE, Minster RL. Carlson JC, et al. Among authors: rosenthal sl. HGG Adv. 2022 Oct 12;4(1):100155. doi: 10.1016/j.xhgg.2022.100155. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36340932 Free PMC article.
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
346 results