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Items: 1 to 20 of 121

1.

Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.

Begum F, Ruczinski I, Li S, Silverman EK, Cho MH, Lynch DA, Curran-Everett D, Crapo J, Scharpf RB, Parker MM, Hetmanski JB, Beaty TH.

Genet Epidemiol. 2016 Jan;40(1):81-8. doi: 10.1002/gepi.21943. Epub 2015 Dec 7.

PMID:
26643968
2.

Plasma Proteome Biomarkers of Inflammation in School Aged Children in Nepal.

Lee SE, West KP Jr, Cole RN, Schulze KJ, Christian P, Wu LS, Yager JD, Groopman J, Ruczinski I.

PLoS One. 2015 Dec 4;10(12):e0144279. doi: 10.1371/journal.pone.0144279. eCollection 2015.

3.

Impact of methods used to express levels of circulating fatty acids on the degree and direction of associations with blood lipids in humans.

Sergeant S, Ruczinski I, Ivester P, Lee TC, Morgan TM, Nicklas BJ, Mathias RA, Chilton FH.

Br J Nutr. 2016 Jan 28;115(2):251-61. doi: 10.1017/S0007114515004341. Epub 2015 Nov 30.

4.

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.

Gao L, Emond MJ, Louie T, Cheadle C, Berger AE, Rafaels N, Vergara C, Kim Y, Taub MA, Ruczinski I, Mathai SC, Rich SS, Nickerson DA, Hummers LK, Bamshad MJ, Hassoun PM, Mathias RA; National Heart, Lung, and Blood Institute GO Exome Sequencing Project, Barnes KC.

Arthritis Rheumatol. 2016 Jan;68(1):191-200. doi: 10.1002/art.39449.

PMID:
26473621
5.

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.

Gao L, Bin L, Rafaels NM, Huang L, Potee J, Ruczinski I, Beaty TH, Paller AS, Schneider LC, Gallo R, Hanifin JM, Beck LA, Geha RS, Mathias RA, Barnes KC, Leung DY.

J Allergy Clin Immunol. 2015 Dec;136(6):1591-600. doi: 10.1016/j.jaci.2015.06.047. Epub 2015 Sep 3.

PMID:
26343451
6.

An IL-13 promoter polymorphism associated with liver fibrosis in patients with Schistosoma japonicum.

Long X, Chen Q, Zhao J, Rafaels N, Mathias P, Liang H, Potee J, Campbell M, Zhang B, Gao L, Georas SN, Vercelli D, Beaty TH, Ruczinski I, Mathias R, Barnes KC, Chen X.

PLoS One. 2015 Aug 10;10(8):e0135360. doi: 10.1371/journal.pone.0135360. eCollection 2015.

7.

Genome-wide association study of schizophrenia in Ashkenazi Jews.

Goes FS, McGrath J, Avramopoulos D, Wolyniec P, Pirooznia M, Ruczinski I, Nestadt G, Kenny EE, Vacic V, Peters I, Lencz T, Darvasi A, Mulle JG, Warren ST, Pulver AE.

Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):649-59. doi: 10.1002/ajmg.b.32349. Epub 2015 Jul 21.

PMID:
26198764
8.

Detecting Significant Changes in Protein Abundance.

Kammers K, Cole RN, Tiengwe C, Ruczinski I.

EuPA Open Proteom. 2015 Jun;7:11-19.

PMID:
25821719
9.

Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.

Avramopoulos D, Pearce BD, McGrath J, Wolyniec P, Wang R, Eckart N, Hatzimanolis A, Goes FS, Nestadt G, Mulle J, Coneely K, Hopkins M, Ruczinski I, Yolken R, Pulver AE.

PLoS One. 2015 Mar 17;10(3):e0116696. doi: 10.1371/journal.pone.0116696. eCollection 2015.

10.

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Younkin SG, Scharpf RB, Schwender H, Parker MM, Scott AF, Marazita ML, Beaty TH, Ruczinski I.

Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):276-83. doi: 10.1002/bdra.23362. Epub 2015 Mar 16.

11.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC.

Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19.

12.

Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.

Hansel NN, Paré PD, Rafaels N, Sin DD, Sandford A, Daley D, Vergara C, Huang L, Elliott WM, Pascoe CD, Arsenault BA, Postma DS, Boezen HM, Bossé Y, van den Berge M, Hiemstra PS, Cho MH, Litonjua AA, Sparrow D, Ober C, Wise RA, Connett J, Neptune ER, Beaty TH, Ruczinski I, Mathias RA, Barnes KC; Lung Health Study.

Am J Respir Cell Mol Biol. 2015 Aug;53(2):226-34. doi: 10.1165/rcmb.2014-0198OC.

PMID:
25514360
13.

Polymorphisms influencing prostate-specific antigen concentration may bias genome-wide association studies on prostate cancer.

Dluzniewski PJ, Xu J, Ruczinski I, Isaacs WB, Platz EA.

Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):88-93. doi: 10.1158/1055-9965.EPI-14-0863. Epub 2014 Oct 28.

14.

Oesophageal squamous cell carcinoma in high-risk Chinese populations: Possible role for vascular epithelial growth factor A.

Golozar A, Beaty TH, Gravitt PE, Ruczinski I, Qiao YL, Fan JH, Ding T, Tang ZZ, Etemadi A, Hu N, Hyland PL, Wang L, Wang C, Dawsey SM, Freedman ND, Abnet CC, Goldstein AM, Taylor PR.

Eur J Cancer. 2014 Nov;50(16):2855-65. doi: 10.1016/j.ejca.2014.07.022. Epub 2014 Aug 26.

15.

Analytic power and sample size calculation for the genotypic transmission/disequilibrium test in case-parent trio studies.

Neumann C, Taub MA, Younkin SG, Beaty TH, Ruczinski I, Schwender H.

Biom J. 2014 Nov;56(6):1076-92. doi: 10.1002/bimj.201300148. Epub 2014 Aug 14.

16.

Detecting disease variants in case-parent trio studies using the bioconductor software package trio.

Schwender H, Li Q, Neumann C, Taub MA, Younkin SG, Berger P, Scharpf RB, Beaty TH, Ruczinski I.

Genet Epidemiol. 2014 Sep;38(6):516-22. doi: 10.1002/gepi.21836. Epub 2014 Jul 21.

17.

Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations.

Scharpf RB, Mireles L, Yang Q, Köttgen A, Ruczinski I, Susztak K, Halper-Stromberg E, Tin A, Cristiano S, Chakravarti A, Boerwinkle E, Fox CS, Coresh J, Linda Kao WH.

BMC Genet. 2014 Jul 9;15:81. doi: 10.1186/1471-2156-15-81.

18.

Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.

Tang W, Kowgier M, Loth DW, Soler Artigas M, Joubert BR, Hodge E, Gharib SA, Smith AV, Ruczinski I, Gudnason V, Mathias RA, Harris TB, Hansel NN, Launer LJ, Barnes KC, Hansen JG, Albrecht E, Aldrich MC, Allerhand M, Barr RG, Brusselle GG, Couper DJ, Curjuric I, Davies G, Deary IJ, Dupuis J, Fall T, Foy M, Franceschini N, Gao W, Gläser S, Gu X, Hancock DB, Heinrich J, Hofman A, Imboden M, Ingelsson E, James A, Karrasch S, Koch B, Kritchevsky SB, Kumar A, Lahousse L, Li G, Lind L, Lindgren C, Liu Y, Lohman K, Lumley T, McArdle WL, Meibohm B, Morris AP, Morrison AC, Musk B, North KE, Palmer LJ, Probst-Hensch NM, Psaty BM, Rivadeneira F, Rotter JI, Schulz H, Smith LJ, Sood A, Starr JM, Strachan DP, Teumer A, Uitterlinden AG, Völzke H, Voorman A, Wain LV, Wells MT, Wilk JB, Williams OD, Heckbert SR, Stricker BH, London SJ, Fornage M, Tobin MD, O'Connor GT, Hall IP, Cassano PA.

PLoS One. 2014 Jul 1;9(7):e100776. doi: 10.1371/journal.pone.0100776. eCollection 2014.

19.

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, Field LL, Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH.

Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2.

20.

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.

Bureau A, Younkin SG, Parker MM, Bailey-Wilson JE, Marazita ML, Murray JC, Mangold E, Albacha-Hejazi H, Beaty TH, Ruczinski I.

Bioinformatics. 2014 Aug 1;30(15):2189-96. doi: 10.1093/bioinformatics/btu198. Epub 2014 Apr 16.

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