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50 results

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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.
Creating the Subspecialty Pediatrics Investigator Network.
Mink R, Schwartz A, Carraccio C, High P, Dammann C, McGann KA, Kesselheim J, Herman B; Steering Committee of the Subspecialty Pediatrics Investigator Network. Mink R, et al. J Pediatr. 2018 Jan;192:3-4.e2. doi: 10.1016/j.jpeds.2017.09.079. J Pediatr. 2018. PMID: 29246355 No abstract available.
Relationship between epa level of supervision with their associated subcompetency milestone levels in pediatric fellow assessment.
Mink RB, Carraccio CL, Herman BE, Weiss P, Turner DA, Stafford DEJ, McGann KA, Kesselheim J, Hsu DC, High PC, Fussell JJ, Curran ML, Chess PR, Sauer C, Pitts S, Myers AL, Mahan JD, Dammann CEL, Aye T, Schwartz A; Subspecialty Pediatrics Investigator Network. Mink RB, et al. BMC Med Educ. 2023 Oct 3;23(1):720. doi: 10.1186/s12909-023-04689-0. BMC Med Educ. 2023. PMID: 37789289 Free PMC article.
Testing the effects of combining azithromycin with inhaled tobramycin for P. aeruginosa in cystic fibrosis: a randomised, controlled clinical trial.
Nichols DP, Singh PK, Baines A, Caverly LJ, Chmiel JF, GIbson RL, Lascano J, Morgan SJ, Retsch-Bogart G, Saiman L, Sadeghi H, Billings JL, Heltshe SL, Kirby S, Kong A, Nick JA, Mayer-Hamblett N; TEACH Study Group. Nichols DP, et al. Thorax. 2022 Jun;77(6):581-588. doi: 10.1136/thoraxjnl-2021-217782. Epub 2021 Oct 27. Thorax. 2022. PMID: 34706982 Free PMC article. Clinical Trial.
Bacterial contamination of cystic fibrosis clinics.
Zuckerman JB, Zuaro DE, Prato BS, Ruoff KL, Sawicki RW, Quinton HB, Saiman L; Infection Control Study Group. Zuckerman JB, et al. J Cyst Fibros. 2009 May;8(3):186-92. doi: 10.1016/j.jcf.2009.01.003. Epub 2009 Feb 28. J Cyst Fibros. 2009. PMID: 19250885 Free article.
Vitamin D deficiency is associated with pulmonary dysfunction in cystic fibrosis.
Sexauer WP, Hadeh A, Ohman-Strickland PA, Zanni RL, Varlotta L, Holsclaw D, Fiel S, Graff GR, Atlas A, Bisberg D, Hadjiliadis D, Michel SH, Mintz D, Chakraborty R, Marra B, Lomas P, Ward T, Sassman M, Imbesi GC, Kitch DM, Mallowe AM. Sexauer WP, et al. Among authors: varlotta l. J Cyst Fibros. 2015 Jul;14(4):497-506. doi: 10.1016/j.jcf.2014.12.006. Epub 2015 Jan 7. J Cyst Fibros. 2015. PMID: 25577127 Free 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.
50 results