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Items: 1 to 20 of 99

1.

Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans.

Polfus LM, Raffield LM, Wheeler MM, Tracy RP, Lange LA, Lettre G, Miller A, Correa A, Bowler RP, Bis JC, Salimi S, Jenny NS, Pankratz N, Wang B, Preuss MH, Zhou L, Moscati A, Nadkarni GN, Loos RJF, Zhong X, Li B, Johnsen JM, Nickerson DA, Reiner AP, Auer PL, Precision Medicine Consortium NTF.

Hum Mol Genet. 2018 Oct 10. doi: 10.1093/hmg/ddy360. [Epub ahead of print]

PMID:
30307499
2.

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group.

Williams LA, Pankratz N, Lane J, Krailo M, Roesler M, Richardson M, Frazier AL, Amatruda JF, Poynter JN.

Cancer. 2018 Oct 1;124(19):3900-3908. doi: 10.1002/cncr.31667. Epub 2018 Oct 6.

PMID:
30291793
3.

Omega-3 Fatty Acids and Genome-wide Interaction Analyses Reveal DPP10-Pulmonary Function Association.

Xu J, Gaddis NC, Bartz TM, Hou R, Manichaikul AW, Pankratz N, Smith AV, Sun F, Terzikhan N, Markunas CA, Patchen BK, Schu M, Beydoun MA, Brusselle GG, Eiriksdottir G, Zhou X, Wood AC, Graff M, Harris TB, Ikram MA, Jacobs DR Jr, Launer LJ, Lemaitre RN, O'Connor G, Oelsner EC, Psaty BM, Ramachandran VS, Rohde RR, Rich SS, Rotter JI, Seshadri S, Smith LJ, Tiemeier H, Tsai MY, Uitterlinden AG, Voruganti VS, Xu H, Zilhão NR, Fornage M, Zillikens MC, London SJ, Barr RG, Dupuis J, Gharib SA, Gudnason V, Lahousse L, North KE, Steffen LM, Cassano PA, Hancock DB.

Am J Respir Crit Care Med. 2018 Sep 10. doi: 10.1164/rccm.201802-0304OC. [Epub ahead of print]

PMID:
30199657
4.

The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis.

Fernández-Rhodes L, Malinowski JR, Wang Y, Tao R, Pankratz N, Jeff JM, Yoneyama S, Carty CL, Setiawan VW, Le Marchand L, Haiman C, Corbett S, Demerath E, Heiss G, Gross M, Buzkova P, Crawford DC, Hunt SC, Rao DC, Schwander K, Chakravarti A, Gottesman O, Abul-Husn NS, Bottinger EP, Loos RJF, Raffel LJ, Yao J, Guo X, Bielinski SJ, Rotter JI, Vaidya D, Chen YI, Castañeda SF, Daviglus M, Kaplan R, Talavera GA, Ryckman KK, Peters U, Ambite JL, Buyske S, Hindorff L, Kooperberg C, Matise T, Franceschini N, North KE.

PLoS One. 2018 Jul 25;13(7):e0200486. doi: 10.1371/journal.pone.0200486. eCollection 2018.

5.

Pleiotropic effects of n-6 and n-3 fatty acid-related genetic variants on circulating hemostatic variables.

Weng LC, Guan W, Steffen LM, Pankow JS, Pankratz N, Chen MH, Cushman M, Basu S, Folsom AR, Tang W.

Thromb Res. 2018 Aug;168:53-59. doi: 10.1016/j.thromres.2018.05.032. Epub 2018 Jun 1.

PMID:
29902632
6.

Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Kocarnik JM, Richard M, Graff M, Haessler J, Bien S, Carlson C, Carty CL, Reiner AP, Avery CL, Ballantyne CM, LaCroix AZ, Assimes TL, Barbalic M, Pankratz N, Tang W, Tao R, Chen D, Talavera GA, Daviglus ML, Chirinos-Medina DA, Pereira R, Nishimura K, Bužková P, Best LG, Ambite JL, Cheng I, Crawford DC, Hindorff LA, Fornage M, Heiss G, North KE, Haiman CA, Peters U, Le Marchand L, Kooperberg C.

Hum Mol Genet. 2018 Aug 15;27(16):2940-2953. doi: 10.1093/hmg/ddy211.

PMID:
29878111
7.

Evaluation of the relationship between plasma lipids and abdominal aortic aneurysm: A Mendelian randomization study.

Weng LC, Roetker NS, Lutsey PL, Alonso A, Guan W, Pankow JS, Folsom AR, Steffen LM, Pankratz N, Tang W.

PLoS One. 2018 Apr 12;13(4):e0195719. doi: 10.1371/journal.pone.0195719. eCollection 2018.

8.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Raffield LM, Ulirsch JC, Naik RP, Lessard S, Handsaker RE, Jain D, Kang HM, Pankratz N, Auer PL, Bao EL, Smith JD, Lange LA, Lange EM, Li Y, Thornton TA, Young BA, Abecasis GR, Laurie CC, Nickerson DA, McCarroll SA, Correa A, Wilson JG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Lettre G, Sankaran VG, Reiner AP.

PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.

9.

Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study.

Raffield LM, Ellis J, Olson NC, Duan Q, Li J, Durda P, Pankratz N, Keating BJ, Wassel CL, Cushman M, Wilson JG, Gross MD, Tracy RP, Rich SS, Reiner AP, Li Y, Willis MS, Lange EM, Lange LA.

J Hum Genet. 2018 Mar;63(3):327-337. doi: 10.1038/s10038-017-0384-9. Epub 2018 Jan 10.

10.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.

Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795.

11.

Corticotropinoma as a Component of Carney Complex.

Hernández-Ramírez LC, Tatsi C, Lodish MB, Faucz FR, Pankratz N, Chittiboina P, Lane J, Kay DM, Valdés N, Dimopoulos A, Mills JL, Stratakis CA.

J Endocr Soc. 2017 May 30;1(7):918-925. doi: 10.1210/js.2017-00231. eCollection 2017 Jul 1.

12.

Rare copy number variants identified in prune belly syndrome.

Boghossian NS, Sicko RJ, Giannakou A, Dimopoulos A, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Romitti PA, Browne ML, Fan R, Liu A, Kay DM, Mills JL.

Eur J Med Genet. 2018 Mar;61(3):145-151. doi: 10.1016/j.ejmg.2017.11.008. Epub 2017 Nov 23.

PMID:
29174092
13.

Association of Mitochondrial DNA Copy Number With Cardiovascular Disease.

Ashar FN, Zhang Y, Longchamps RJ, Lane J, Moes A, Grove ML, Mychaleckyj JC, Taylor KD, Coresh J, Rotter JI, Boerwinkle E, Pankratz N, Guallar E, Arking DE.

JAMA Cardiol. 2017 Nov 1;2(11):1247-1255. doi: 10.1001/jamacardio.2017.3683.

14.

Correction to: Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium.

Bien SA, Pankow JS, Haessler J, Lu Y, Pankratz N, Rohde RR, Tamuno A, Carlson CS, Schumacher FR, Bůžková P, Daviglus ML, Lim U, Fornage M, Fernandez-Rhodes L, Avilés-Santa L, Buyske S, Gross MD, Graff M, Isasi CR, Kuller LH, Manson JE, Matise TC, Prentice RL, Wilkens LR, Yoneyama S, Loos RJF, Hindorff LA, Le Marchand L, North KE, Haiman CA, Peters U, Kooperberg C.

Diabetologia. 2017 Dec;60(12):2542-2543. doi: 10.1007/s00125-017-4476-z.

15.

Association between mitochondrial DNA copy number and sudden cardiac death: findings from the Atherosclerosis Risk in Communities study (ARIC).

Zhang Y, Guallar E, Ashar FN, Longchamps RJ, Castellani CA, Lane J, Grove ML, Coresh J, Sotoodehnia N, Ilkhanoff L, Boerwinkle E, Pankratz N, Arking DE.

Eur Heart J. 2017 Dec 7;38(46):3443-3448. doi: 10.1093/eurheartj/ehx354.

PMID:
29020391
16.

Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium.

Bien SA, Pankow JS, Haessler J, Lu YN, Pankratz N, Rohde RR, Tamuno A, Carlson CS, Schumacher FR, Bůžková P, Daviglus ML, Lim U, Fornage M, Fernandez-Rhodes L, Avilés-Santa L, Buyske S, Gross MD, Graff M, Isasi CR, Kuller LH, Manson JE, Matise TC, Prentice RL, Wilkens LR, Yoneyama S, Loos RJF, Hindorff LA, Le Marchand L, North KE, Haiman CA, Peters U, Kooperberg C.

Diabetologia. 2017 Dec;60(12):2384-2398. doi: 10.1007/s00125-017-4405-1. Epub 2017 Sep 13.

PMID:
28905132
17.

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.

Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD.

BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017.

18.

Failure to replicate thrombomodulin genetic variant predictors of venous thromboembolism in African Americans.

Folsom AR, Roetker NS, Kelley ST, Tang W, Pankratz N.

Blood. 2017 Aug 3;130(5):688-690. doi: 10.1182/blood-2017-03-771329. Epub 2017 Jun 15. No abstract available.

19.

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.

Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA.

Endocr Relat Cancer. 2017 Aug;24(8):379-392. doi: 10.1530/ERC-17-0131. Epub 2017 May 22.

20.

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161.

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