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Year Number of Results
1989 1
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2011 1
2012 2
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2016 8
2017 8
2018 3
2019 5
2020 4
2021 16
2022 16
2023 15
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93 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Principles and methods for transferring polygenic risk scores across global populations.
Kachuri L, Chatterjee N, Hirbo J, Schaid DJ, Martin I, Kullo IJ, Kenny EE, Pasaniuc B; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group; Witte JS, Ge T. Kachuri L, et al. Nat Rev Genet. 2024 Jan;25(1):8-25. doi: 10.1038/s41576-023-00637-2. Epub 2023 Aug 24. Nat Rev Genet. 2024. PMID: 37620596 Free PMC article. Review.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, M… See abstract for full author list ➔ Taliun D, et al. Among authors: conomos mp. Nature. 2021 Feb;590(7845):290-299. doi: 10.1038/s41586-021-03205-y. Epub 2021 Feb 10. Nature. 2021. PMID: 33568819 Free PMC article.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy A… See abstract for full author list ➔ Weinstock JS, et al. Nature. 2023 Apr;616(7958):755-763. doi: 10.1038/s41586-023-05806-1. Epub 2023 Apr 12. Nature. 2023. PMID: 37046083 Free PMC article.
Genetic analyses of diverse populations improves discovery for complex traits.
Wojcik GL, Graff M, Nishimura KK, Tao R, Haessler J, Gignoux CR, Highland HM, Patel YM, Sorokin EP, Avery CL, Belbin GM, Bien SA, Cheng I, Cullina S, Hodonsky CJ, Hu Y, Huckins LM, Jeff J, Justice AE, Kocarnik JM, Lim U, Lin BM, Lu Y, Nelson SC, Park SL, Poisner H, Preuss MH, Richard MA, Schurmann C, Setiawan VW, Sockell A, Vahi K, Verbanck M, Vishnu A, Walker RW, Young KL, Zubair N, Acuña-Alonso V, Ambite JL, Barnes KC, Boerwinkle E, Bottinger EP, Bustamante CD, Caberto C, Canizales-Quinteros S, Conomos MP, Deelman E, Do R, Doheny K, Fernández-Rhodes L, Fornage M, Hailu B, Heiss G, Henn BM, Hindorff LA, Jackson RD, Laurie CA, Laurie CC, Li Y, Lin DY, Moreno-Estrada A, Nadkarni G, Norman PJ, Pooler LC, Reiner AP, Romm J, Sabatti C, Sandoval K, Sheng X, Stahl EA, Stram DO, Thornton TA, Wassel CL, Wilkens LR, Winkler CA, Yoneyama S, Buyske S, Haiman CA, Kooperberg C, Le Marchand L, Loos RJF, Matise TC, North KE, Peters U, Kenny EE, Carlson CS. Wojcik GL, et al. Among authors: conomos mp. Nature. 2019 Jun;570(7762):514-518. doi: 10.1038/s41586-019-1310-4. Epub 2019 Jun 19. Nature. 2019. PMID: 31217584 Free PMC article.
DUOX2 variants associate with preclinical disturbances in microbiota-immune homeostasis and increased inflammatory bowel disease risk.
Grasberger H, Magis AT, Sheng E, Conomos MP, Zhang M, Garzotto LS, Hou G, Bishu S, Nagao-Kitamoto H, El-Zaatari M, Kitamoto S, Kamada N, Stidham RW, Akiba Y, Kaunitz J, Haberman Y, Kugathasan S, Denson LA, Omenn GS, Kao JY. Grasberger H, et al. Among authors: conomos mp. J Clin Invest. 2021 May 3;131(9):e141676. doi: 10.1172/JCI141676. J Clin Invest. 2021. PMID: 33651715 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. Among authors: conomos mp. 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.
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.
de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Lino Cardenas CL, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MS, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR Jr, Nickerson DA, Boerwinkle E, Wang FF, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JV, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min YI, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJ, Pereira AC, Assimes TL, Stitziel NO, Hoka… See abstract for full author list ➔ de Vries PS, et al. Among authors: conomos mp. Nat Cardiovasc Res. 2023 Dec;2(12):1159-1172. doi: 10.1038/s44161-023-00375-y. Epub 2023 Dec 4. Nat Cardiovasc Res. 2023. PMID: 38817323 Free PMC article.
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang MZ, DiCorpo D, Gaynor SM, Dey R, Arnett DK, Benjamin EJ, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly TN, Konigsberg I, Kooperberg C, Kral BG, Li C, Li Y, Lin H, Liu CT, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Mitchell BD, Montasser ME, Morrison AC, Naseri T, North KE, Palmer ND, Peyser PA, Psaty BM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari HK, Vasan RS, Viali S, Wang Z, Wessel J, Yanek LR, Yu B; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Dupuis J, Meigs JB, Auer PL, Raffield LM, Manning AK, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. Li X, et al. Nat Comput Sci. 2025 Feb;5(2):125-143. doi: 10.1038/s43588-024-00764-8. Epub 2025 Feb 7. Nat Comput Sci. 2025. PMID: 39920506 Free PMC article.
93 results