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Page 1
The genomic landscape of familial glioma.
Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium; Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M. Choi DJ, et al. Among authors: boerwinkle e. Sci Adv. 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. Epub 2023 Apr 28. Sci Adv. 2023. PMID: 37115922 Free PMC article.
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Dinckan N, et al. Among authors: boerwinkle e. J Dent Res. 2018 Jan;97(1):49-59. doi: 10.1177/0022034517724149. Epub 2017 Aug 16. J Dent Res. 2018. PMID: 28813618 Free PMC article.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. Dardas Z, et al. Among authors: boerwinkle e. Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. Genome Med. 2024. PMID: 38570875 Free PMC article.
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, Muzny DM, Metcalf GA, Gibbs RA, Yu B, Boerwinkle E, Eberle MA, Sedlazeck FJ. Behera S, et al. Among authors: boerwinkle e. BMC Med Genomics. 2024 Oct 24;17(1):255. doi: 10.1186/s12920-024-02024-0. BMC Med Genomics. 2024. PMID: 39449055 Free PMC article.
Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease.
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, Köttgen A, Francis M; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium TOPMed Kidney Function Working Group; Brody JA, Kestenbaum B, Sitlani CM, Mychaleckyj JC, Kramer H, Lange LA, Guo X, Hwang SJ, Irvin MR, Smith JA, Yanek LR, Vaidya D, Chen YI, Fornage M, Lloyd-Jones DM, Hou L, Mathias RA, Mitchell BD, Peyser PA, Kardia SLR, Arnett DK, Correa A, Raffield LM, Vasan RS, Cupple LA, Levy D, Kaplan RC, North KE, Rotter JI, Kooperberg C, Reiner AP, Psaty BM, Tracy RP, Gibbs RA, Morrison AC, Feldman H, Boerwinkle E, He J, Kelly TN; CRIC Study Investigators. Pan Y, et al. Among authors: boerwinkle e. Hum Mol Genet. 2023 Mar 6;32(6):1048-1060. doi: 10.1093/hmg/ddac290. Hum Mol Genet. 2023. PMID: 36444934 Free PMC article.
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, Hou L, Lloyd-Jones DM, Psaty BM, Tracy RP, Bis JC, Vasan RS, Levy D, Heard-Costa N, Rich SS, Guo X, Taylor KD, Gibbs RA, Rotter JI, Willer CJ, Oelsner EC, Moran AE, Peloso GM, Natarajan P, Khera AV. Dron JS, et al. Among authors: boerwinkle e. JAMA Cardiol. 2023 Mar 1;8(3):258-267. doi: 10.1001/jamacardio.2022.5271. JAMA Cardiol. 2023. PMID: 36723951 Free PMC article.
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.
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
Shyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs RA, Hall I, Matise T, Reeves C, Stitziel NO, Zody M, Neale BM, Lin X. Shyr D, et al. Among authors: boerwinkle e. Am J Hum Genet. 2024 Oct 3;111(10):2129-2138. doi: 10.1016/j.ajhg.2024.08.018. Epub 2024 Sep 12. Am J Hum Genet. 2024. PMID: 39270648
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Hawkes G, Beaumont RN, Li Z, Mandla R, Li X, Albert CM, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Boerwinkle E, Brody JA, Carson AP, Chami N, Chen YI, Chung MK, Curran JE, Darbar D, Ellinor PT, Fornage M, Gordeuk VR, Guo X, He J, Hwu CM, Kalyani RR, Kaplan R, Kardia SLR, Kooperberg C, Loos RJF, Lubitz SA, Minster RL, Naseri T, Viali S, Mitchell BD, Murabito JM, Palmer ND, Psaty BM, Redline S, Shoemaker MB, Silverman EK, Telen MJ, Weiss ST, Yanek LR, Zhou H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Liu CT, North KE, Justice AE, Locke JM, Owens N, Murray A, Patel K, Frayling TM, Wright CF, Wood AR, Lin X, Manning A, Weedon MN. Hawkes G, et al. Among authors: boerwinkle e. Nat Commun. 2024 Oct 3;15(1):8549. doi: 10.1038/s41467-024-52579-w. Nat Commun. 2024. PMID: 39362880 Free PMC article.
Rare variant contribution to the heritability of coronary artery disease.
Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, Jun G, Laurie C, Broome JG, Khan AT, Arnett DK, Becker LC, Bis JC, Boerwinkle E, Bowden DW, Carson AP, Ellinor PT, Fornage M, Franceschini N, Freedman BI, Heard-Costa NL, Hou L, Chen YI, Kenny EE, Kooperberg C, Kral BG, Loos RJF, Lutz SM, Manson JE, Martin LW, Mitchell BD, Nassir R, Palmer ND, Post WS, Preuss MH, Psaty BM, Raffield LM, Regan EA, Rich SS, Smith JA, Taylor KD, Yanek LR, Young KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Hilliard AT, Tcheandjieu C, Peyser PA, Vasan RS, Rotter JI, Miller CL, Assimes TL, de Vries PS, Do R. Rocheleau G, et al. Among authors: boerwinkle e. Nat Commun. 2024 Oct 9;15(1):8741. doi: 10.1038/s41467-024-52939-6. Nat Commun. 2024. PMID: 39384761 Free PMC article.
1,445 results