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Page 1
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project; Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Do R, et al. Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10. Nature. 2015. PMID: 25487149 Free PMC article.
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project; Bamshad MJ. Tabor HK, et al. Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087612 Free PMC article.
Fine-scale patterns of population stratification confound rare variant association tests.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E; NHLBIGO Exome Sequencing Project; ESP Population Genetics, Statistical Analysis Working Group; Leal SM, Akey JM. O'Connor TD, et al. PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013. PLoS One. 2013. PMID: 23861739 Free PMC article.
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project. Rosenthal EA, et al. Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28. Hum Genet. 2018. PMID: 30267214 Free PMC article. Clinical Trial.
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project. Lange LA, et al. Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010. Am J Hum Genet. 2014. PMID: 24507775 Free PMC article.
Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7  TeV.
Aad G, Abbott B, Abdallah J, Abdelalim AA, Abdesselam A, Abdinov O, Abi B, Abolins M, Abramowicz H, Abreu H, Acerbi E, Acharya BS, Adams DL, Addy TN, Adelman J, Aderholz M, Adomeit S, Adragna P, Adye T, Aefsky S, Aguilar-Saavedra JA, Aharrouche M, Ahlen SP, Ahles F, Ahmad A, Ahsan M, Aielli G, Akdogan T, Åkesson TP, Akimoto G, Akimov AV, Alam MS, Alam MA, Albrand S, Aleksa M, Aleksandrov IN, Aleppo M, Alessandria F, Alexa C, Alexander G, Alexandre G, Alexopoulos T, Alhroob M, Aliev M, Alimonti G, Alison J, Aliyev M, Allport PP, Allwood-Spiers SE, Almond J, Aloisio A, Alon R, Alonso A, Alviggi MG, Amako K, Amaral P, Amelung C, Ammosov VV, Amorim A, Amorós G, Amram N, Anastopoulos C, Andeen T, Anders CF, Anderson KJ, Andreazza A, Andrei V, Andrieux ML, Anduaga XS, Angerami A, Anghinolfi F, Anjos N, Annovi A, Antonaki A, Antonelli M, Antonelli S, Antonov A, Antos J, Anulli F, Aoun S, Aperio Bella L, Apolle R, Arabidze G, Aracena I, Arai Y, Arce AT, Archambault JP, Arfaoui S, Arguin JF, Arik E, Arik M, Armbruster AJ, Arnaez O, Arnault C, Artamonov A, Artoni G, Arutinov D, Asai S, Asfandiyarov R, Ask S, Åsman B, Asquith L, Assamagan K, Astbury A, Astvatsatourov A, Atoian G, Aubert B, A… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2011 Apr 29;106(17):172002. doi: 10.1103/PhysRevLett.106.172002. Epub 2011 Apr 29. Phys Rev Lett. 2011. PMID: 21635030 Free article.
Observation of a new χ(b) state in radiative transitions to Υ(1S) and Υ(2S) at ATLAS.
Aad G, Abbott B, Abdallah J, Abdelalim AA, Abdesselam A, Abdinov O, Abi B, Abolins M, AbouZeid OS, Abramowicz H, Abreu H, Acerbi E, Acharya BS, Adamczyk L, Adams DL, Addy TN, Adelman J, Aderholz M, Adomeit S, Adragna P, Adye T, Aefsky S, Aguilar-Saavedra JA, Aharrouche M, Ahlen SP, Ahles F, Ahmad A, Ahsan M, Aielli G, Akdogan T, Åkesson TP, Akimoto G, Akimov AV, Akiyama A, Alam MS, Alam MA, Albert J, Albrand S, Aleksa M, Aleksandrov IN, Alessandria F, Alexa C, Alexander G, Alexandre G, Alexopoulos T, Alhroob M, Aliev M, Alimonti G, Alison J, Aliyev M, Allbrooke BM, Allport PP, Allwood-Spiers SE, Almond J, Aloisio A, Alon R, Alonso A, Alvarez Gonzalez B, Alviggi MG, Amako K, Amaral P, Amelung C, Ammosov VV, Amorim A, Amorós G, Amram N, Anastopoulos C, Ancu LS, Andari N, Andeen T, Anders CF, Anders G, Anderson KJ, Andreazza A, Andrei V, Andrieux ML, Anduaga XS, Angerami A, Anghinolfi F, Anisenkov A, Anjos N, Annovi A, Antonaki A, Antonelli M, Antonov A, Antos J, Anulli F, Aoun S, Aperio Bella L, Apolle R, Arabidze G, Aracena I, Arai Y, Arce AT, Arfaoui S, Arguin JF, Arik E, Arik M, Armbruster AJ, Arnaez O, Arnault C, Artamonov A, Artoni G, Arutinov D, Asai S, Asfandiyarov R, Ask S, … See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2012 Apr 13;108(15):152001. doi: 10.1103/PhysRevLett.108.152001. Epub 2012 Apr 9. Phys Rev Lett. 2012. PMID: 22587245 Free article.
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.
45 results