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Items: 1 to 50 of 307

1.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Kirchner HL, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z; DiscovEHR and Penn Medicine Biobank Studies.

Circulation. 2019 Jun 20. doi: 10.1161/CIRCULATIONAHA.119.039573. [Epub ahead of print] No abstract available.

PMID:
31216868
2.

Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.

Miller JE, Metpally RP, Person TN, Krishnamurthy S, Dasari VR, Shivakumar M, Lavage DR, Cook AM, Carey DJ, Ritchie MD, Kim D, Gogoi R; DiscovEHR collaboration.

BMC Med Genomics. 2019 May 22;12(1):65. doi: 10.1186/s12920-019-0523-6.

3.

Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes.

Miller JE, Veturi Y, Ritchie MD.

BioData Min. 2019 May 14;12:10. doi: 10.1186/s13040-019-0197-9. eCollection 2019. Review.

4.

Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.

Miller JE, Metpally RP, Person TN, Krishnamurthy S, Dasari VR, Shivakumar M, Lavage DR, Cook AM, Carey DJ, Ritchie MD, Kim D, Gogoi R; DiscovEHR collaboration.

BMC Med Genomics. 2019 May 3;12(1):59. doi: 10.1186/s12920-019-0504-9. Erratum in: BMC Med Genomics. 2019 May 22;12(1):65.

5.

Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.

Hellwege JN, Stallings S, Torstenson ES, Carroll R, Borthwick KM, Brilliant MH, Crosslin D, Gordon A, Hripcsak G, Jarvik GP, Linneman JG, Devi P, Peissig PL, Sleiman PAM, Hakonarson H, Ritchie MD, Verma SS, Shang N, Denny JC, Roden DM, Velez Edwards DR, Edwards TL.

Sci Rep. 2019 Apr 15;9(1):6077. doi: 10.1038/s41598-019-42427-z.

6.

Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies.

Li B, Veturi Y, Bradford Y, Verma SS, Verma A, Lucas AM, Haas DW, Ritchie MD.

Pac Symp Biocomput. 2019;24:296-307.

7.

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.

Zhang X, Veturi Y, Verma S, Bone W, Verma A, Lucas A, Hebbring S, Denny JC, Stanaway IB, Jarvik GP, Crosslin D, Larson EB, Rasmussen-Torvik L, Pendergrass SA, Smoller JW, Hakonarson H, Sleiman P, Weng C, Fasel D, Wei WQ, Kullo I, Schaid D, Chung WK, Ritchie MD.

Pac Symp Biocomput. 2019;24:272-283.

8.

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Safarova MS, Satterfield BA, Fan X, Austin EE, Ye Z, Bastarache L, Zheng N, Ritchie MD, Borthwick KM, Williams MS, Larson EB, Scrol A, Jarvik GP, Crosslin DR, Leppig K, Rasmussen-Torvik LJ, Pendergrass SA, Sturm AC, Namjou B, Shah AS, Carroll RJ, Chung WK, Wei WQ, Feng Q, Stein CM, Roden DM, Manolio TA, Schaid DJ, Denny JC, Hebbring SJ, de Andrade M, Kullo IJ.

NPJ Genom Med. 2019 Feb 11;4:3. doi: 10.1038/s41525-019-0078-7. eCollection 2019.

9.

Preparing next-generation scientists for biomedical big data: artificial intelligence approaches.

Moore JH, Boland MR, Camara PG, Chervitz H, Gonzalez G, Himes BE, Kim D, Mowery DL, Ritchie MD, Shen L, Urbanowicz RJ, Holmes JH.

Per Med. 2019 May 1;16(3):247-257. doi: 10.2217/pme-2018-0145. Epub 2019 Feb 14.

PMID:
30760118
10.

Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico.

Zhang X, Basile AO, Pendergrass SA, Ritchie MD.

BMC Bioinformatics. 2019 Jan 22;20(1):46. doi: 10.1186/s12859-018-2591-6.

11.

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.

JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.

12.

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.

Verma A, Bang L, Miller JE, Zhang Y, Lee MTM, Zhang Y, Byrska-Bishop M, Carey DJ, Ritchie MD, Pendergrass SA, Kim D; DiscovEHR Collaboration.

Am J Hum Genet. 2019 Jan 3;104(1):55-64. doi: 10.1016/j.ajhg.2018.11.006. Epub 2018 Dec 29.

13.

Probing the Virtual Proteome to Identify Novel Disease Biomarkers.

Mosley JD, Benson MD, Smith JG, Melander O, Ngo D, Shaffer CM, Ferguson JF, Herzig MS, McCarty CA, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Kitchner TE, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Kiryluk K, Mentch FD, Sleiman PM, Karlson EW, Verma SS, Zhu Y, Vasan RS, Yang Q, Denny JC, Roden DM, Gerszten RE, Wang TJ.

Circulation. 2018 Nov 27;138(22):2469-2481. doi: 10.1161/CIRCULATIONAHA.118.036063.

PMID:
30571344
14.

Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide.

Verma SS, Josyula N, Verma A, Zhang X, Veturi Y, Dewey FE, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Sci Rep. 2018 Oct 23;8(1):15911. doi: 10.1038/s41598-018-27936-7.

15.

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.

16.

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.

Mosley JD, Feng Q, Wells QS, Van Driest SL, Shaffer CM, Edwards TL, Bastarache L, Wei WQ, Davis LK, McCarty CA, Thompson W, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Verma SS, Karnes JH, Weiss ST, Wang TJ, Stein CM, Denny JC, Roden DM.

Nat Commun. 2018 Aug 30;9(1):3522. doi: 10.1038/s41467-018-05624-4.

17.

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

van Setten J, Brody JA, Jamshidi Y, Swenson BR, Butler AM, Campbell H, Del Greco FM, Evans DS, Gibson Q, Gudbjartsson DF, Kerr KF, Krijthe BP, Lyytikäinen LP, Müller C, Müller-Nurasyid M, Nolte IM, Padmanabhan S, Ritchie MD, Robino A, Smith AV, Steri M, Tanaka T, Teumer A, Trompet S, Ulivi S, Verweij N, Yin X, Arnar DO, Asselbergs FW, Bader JS, Barnard J, Bis J, Blankenberg S, Boerwinkle E, Bradford Y, Buckley BM, Chung MK, Crawford D, den Hoed M, Denny JC, Dominiczak AF, Ehret GB, Eijgelsheim M, Ellinor PT, Felix SB, Franco OH, Franke L, Harris TB, Holm H, Ilaria G, Iorio A, Kähönen M, Kolcic I, Kors JA, Lakatta EG, Launer LJ, Lin H, Lin HJ, Loos RJF, Lubitz SA, Macfarlane PW, Magnani JW, Leach IM, Meitinger T, Mitchell BD, Munzel T, Papanicolaou GJ, Peters A, Pfeufer A, Pramstaller PP, Raitakari OT, Rotter JI, Rudan I, Samani NJ, Schlessinger D, Silva Aldana CT, Sinner MF, Smith JD, Snieder H, Soliman EZ, Spector TD, Stott DJ, Strauch K, Tarasov KV, Thorsteinsdottir U, Uitterlinden AG, Van Wagoner DR, Völker U, Völzke H, Waldenberger M, Jan Westra H, Wild PS, Zeller T, Alonso A, Avery CL, Bandinelli S, Benjamin EJ, Cucca F, Dörr M, Ferrucci L, Gasparini P, Gudnason V, Hayward C, Heckbert SR, Hicks AA, Jukema JW, Kääb S, Lehtimäki T, Liu Y, Munroe PB, Parsa A, Polasek O, Psaty BM, Roden DM, Schnabel RB, Sinagra G, Stefansson K, Stricker BH, van der Harst P, van Duijn CM, Wilson JF, Gharib SA, de Bakker PIW, Isaacs A, Arking DE, Sotoodehnia N.

Nat Commun. 2018 Jul 25;9(1):2904. doi: 10.1038/s41467-018-04766-9.

18.

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

Lee JJ, Wedow R, Okbay A, Kong E, Maghzian O, Zacher M, Nguyen-Viet TA, Bowers P, Sidorenko J, Karlsson Linnér R, Fontana MA, Kundu T, Lee C, Li H, Li R, Royer R, Timshel PN, Walters RK, Willoughby EA, Yengo L; 23andMe Research Team; COGENT (Cognitive Genomics Consortium); Social Science Genetic Association Consortium, Alver M, Bao Y, Clark DW, Day FR, Furlotte NA, Joshi PK, Kemper KE, Kleinman A, Langenberg C, Mägi R, Trampush JW, Verma SS, Wu Y, Lam M, Zhao JH, Zheng Z, Boardman JD, Campbell H, Freese J, Harris KM, Hayward C, Herd P, Kumari M, Lencz T, Luan J, Malhotra AK, Metspalu A, Milani L, Ong KK, Perry JRB, Porteous DJ, Ritchie MD, Smart MC, Smith BH, Tung JY, Wareham NJ, Wilson JF, Beauchamp JP, Conley DC, Esko T, Lehrer SF, Magnusson PKE, Oskarsson S, Pers TH, Robinson MR, Thom K, Watson C, Chabris CF, Meyer MN, Laibson DI, Yang J, Johannesson M, Koellinger PD, Turley P, Visscher PM, Benjamin DJ, Cesarini D.

Nat Genet. 2018 Jul 23;50(8):1112-1121. doi: 10.1038/s41588-018-0147-3.

19.

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Gusarova V, O'Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, Scott RA, Lee WJ, Small A, Kwee LC, Dwivedi OP, Prasad RB, Bruse S, Lopez AE, Penn J, Marcketta A, Leader JB, Still CD, Kirchner HL, Mirshahi UL, Wardeh AH, Hartle CM, Habegger L, Fetterolf SN, Tusie-Luna T, Morris AP, Holm H, Steinthorsdottir V, Sulem P, Thorsteinsdottir U, Rotter JI, Chuang LM, Damrauer S, Birtwell D, Brummett CM, Khera AV, Natarajan P, Orho-Melander M, Flannick J, Lotta LA, Willer CJ, Holmen OL, Ritchie MD, Ledbetter DH, Murphy AJ, Borecki IB, Reid JG, Overton JD, Hansson O, Groop L, Shah SH, Kraus WE, Rader DJ, Chen YI, Hveem K, Wareham NJ, Kathiresan S, Melander O, Stefansson K, Nordestgaard BG, Tybjærg-Hansen A, Abecasis GR, Altshuler D, Florez JC, Boehnke M, McCarthy MI, Yancopoulos GD, Carey DJ, Shuldiner AR, Baras A, Dewey FE, Gromada J.

Nat Commun. 2018 Jun 13;9(1):2252. doi: 10.1038/s41467-018-04611-z.

21.

Brain neurotransmitter transporter/receptor genomics and efavirenz central nervous system adverse events.

Haas DW, Bradford Y, Verma A, Verma SS, Eron JJ, Gulick RM, Riddler SA, Sax PE, Daar ES, Morse GD, Acosta EP, Ritchie MD.

Pharmacogenet Genomics. 2018 Jul;28(7):179-187. doi: 10.1097/FPC.0000000000000341.

PMID:
29847509
22.

Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity.

Li R, Kim D, Wheeler HE, Dudek SM, Dolan ME, Ritchie MD.

Pharmacogenomics J. 2019 Apr;19(2):178-190. doi: 10.1038/s41397-018-0024-6. Epub 2018 May 25.

PMID:
29795408
23.

Collective feature selection to identify crucial epistatic variants.

Verma SS, Lucas A, Zhang X, Veturi Y, Dudek S, Li B, Li R, Urbanowicz R, Moore JH, Kim D, Ritchie MD.

BioData Min. 2018 Apr 19;11:5. doi: 10.1186/s13040-018-0168-6. eCollection 2018.

24.

Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC).

Bergmeijer TO, Reny JL, Pakyz RE, Gong L, Lewis JP, Kim EY, Aradi D, Fernandez-Cadenas I, Horenstein RB, Lee MTM, Whaley RM, Montaner J, Gensini GF, Cleator JH, Chang K, Holmvang L, Hochholzer W, Roden DM, Winter S, Altman RB, Alexopoulos D, Kim HS, Déry JP, Gawaz M, Bliden K, Valgimigli M, Marcucci R, Campo G, Schaeffeler E, Dridi NP, Wen MS, Shin JG, Simon T, Fontana P, Giusti B, Geisler T, Kubo M, Trenk D, Siller-Matula JM, Ten Berg JM, Gurbel PA, Hulot JS, Mitchell BD, Schwab M, Ritchie MD, Klein TE, Shuldiner AR; ICPC Investigators.

Am Heart J. 2018 Apr;198:152-159. doi: 10.1016/j.ahj.2017.12.010. Epub 2017 Dec 17. Review.

25.

A simulation study investigating power estimates in phenome-wide association studies.

Verma A, Bradford Y, Dudek S, Lucas AM, Verma SS, Pendergrass SA, Ritchie MD.

BMC Bioinformatics. 2018 Apr 4;19(1):120. doi: 10.1186/s12859-018-2135-0.

26.

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

Verma A, Lucas A, Verma SS, Zhang Y, Josyula N, Khan A, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Am J Hum Genet. 2018 Apr 5;102(4):592-608. doi: 10.1016/j.ajhg.2018.02.017. Epub 2018 Mar 29.

27.

Current Scope and Challenges in Phenome-Wide Association Studies.

Verma A, Ritchie MD.

Curr Epidemiol Rep. 2017 Dec;4(4):321-329. doi: 10.1007/s40471-017-0127-7. Epub 2017 Nov 2.

28.

Rare variants in drug target genes contributing to complex diseases, phenome-wide.

Verma SS, Josyula N, Verma A, Zhang X, Veturi Y, Dewey FE, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Sci Rep. 2018 Mar 15;8(1):4624. doi: 10.1038/s41598-018-22834-4. Erratum in: Sci Rep. 2018 Oct 23;8(1):15911.

29.

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects.

Volpi S, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Jacob HJ, Kasapi M, McLeod HL, Roden DM, Williams MS, Green ED, Rodriguez LL, Aronson S, Cavallari LH, Denny JC, Dressler LG, Johnson JA, Klein TE, Leeder JS, Piquette-Miller M, Perera M, Rasmussen-Torvik LJ, Rehm HL, Ritchie MD, Skaar TC, Wagle N, Weinshilboum R, Weitzel KW, Wildin R, Wilson J, Manolio TA, Relling MV.

Clin Pharmacol Ther. 2018 May;103(5):778-786. doi: 10.1002/cpt.1048. Epub 2018 Mar 30. Review.

30.

Informatics and machine learning to define the phenotype.

Basile AO, Ritchie MD.

Expert Rev Mol Diagn. 2018 Mar;18(3):219-226. doi: 10.1080/14737159.2018.1439380. Epub 2018 Feb 16. Review.

31.

Another Round of "Clue" to Uncover the Mystery of Complex Traits.

Verma SS, Ritchie MD.

Genes (Basel). 2018 Jan 25;9(2). pii: E61. doi: 10.3390/genes9020061. Review.

32.

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Nielsen JB, Fritsche LG, Zhou W, Teslovich TM, Holmen OL, Gustafsson S, Gabrielsen ME, Schmidt EM, Beaumont R, Wolford BN, Lin M, Brummett CM, Preuss MH, Refsgaard L, Bottinger EP, Graham SE, Surakka I, Chu Y, Skogholt AH, Dalen H, Boyle AP, Oral H, Herron TJ, Kitzman J, Jalife J, Svendsen JH, Olesen MS, Njølstad I, Løchen ML, Baras A, Gottesman O, Marcketta A, O'Dushlaine C, Ritchie MD, Wilsgaard T, Loos RJF, Frayling TM, Boehnke M, Ingelsson E, Carey DJ, Dewey FE, Kang HM, Abecasis GR, Hveem K, Willer CJ.

Am J Hum Genet. 2018 Jan 4;102(1):103-115. doi: 10.1016/j.ajhg.2017.12.003. Epub 2017 Dec 28.

33.

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.

Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF.

Genet Med. 2018 Apr;20(5):554-558. doi: 10.1038/gim.2017.145. Epub 2017 Oct 26.

34.

Evaluation of PrediXcan for prioritizing GWAS associations and predicting gene expression.

Li B, Verma SS, Veturi YC, Verma A, Bradford Y, Haas DW, Ritchie MD.

Pac Symp Biocomput. 2018;23:448-459.

36.

PharmCAT: A Pharmacogenomics Clinical Annotation Tool.

Klein TE, Ritchie MD.

Clin Pharmacol Ther. 2018 Jul;104(1):19-22. doi: 10.1002/cpt.928. Epub 2017 Dec 1.

37.

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.

Hall MA, Wallace J, Lucas A, Kim D, Basile AO, Verma SS, McCarty CA, Brilliant MH, Peissig PL, Kitchner TE, Verma A, Pendergrass SA, Dudek SM, Moore JH, Ritchie MD.

Nat Commun. 2017 Oct 27;8(1):1167. doi: 10.1038/s41467-017-00802-2.

38.

Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases.

McAllister K, Mechanic LE, Amos C, Aschard H, Blair IA, Chatterjee N, Conti D, Gauderman WJ, Hsu L, Hutter CM, Jankowska MM, Kerr J, Kraft P, Montgomery SB, Mukherjee B, Papanicolaou GJ, Patel CJ, Ritchie MD, Ritz BR, Thomas DC, Wei P, Witte JS.

Am J Epidemiol. 2017 Oct 1;186(7):753-761. doi: 10.1093/aje/kwx227.

39.

Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions.

Ritchie MD, Davis JR, Aschard H, Battle A, Conti D, Du M, Eskin E, Fallin MD, Hsu L, Kraft P, Moore JH, Pierce BL, Bien SA, Thomas DC, Wei P, Montgomery SB.

Am J Epidemiol. 2017 Oct 1;186(7):771-777. doi: 10.1093/aje/kwx229.

40.

Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants.

Basile AO, Byrska-Bishop M, Wallace J, Frase AT, Ritchie MD.

Bioinformatics. 2018 Feb 1;34(3):527-529. doi: 10.1093/bioinformatics/btx559.

41.

Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology.

Mechanic LE, Lindström S, Daily KM, Sieberts SK, Amos CI, Chen HS, Cox NJ, Dathe M, Feuer EJ, Guertin MJ, Hoffman J, Liu Y, Moore JH, Myers CL, Ritchie MD, Schildkraut J, Schumacher F, Witte JS, Wang W, Williams SM; U4C Challenge Participants; U4C Challenge Data Contributors, Gillanders EM.

PLoS Genet. 2017 Sep 28;13(9):e1006945. doi: 10.1371/journal.pgen.1006945. eCollection 2017 Sep. No abstract available.

42.

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.

43.

Methods to analyze big data in pharmacogenomics research.

Li R, Kim D, Ritchie MD.

Pharmacogenomics. 2017 Jun;18(8):807-820. doi: 10.2217/pgs-2016-0152. Epub 2017 Jun 14. Review.

PMID:
28612644
44.

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease.

Kim D, Basile AO, Bang L, Horgusluoglu E, Lee S, Ritchie MD, Saykin AJ, Nho K.

BMC Med Inform Decis Mak. 2017 May 18;17(Suppl 1):61. doi: 10.1186/s12911-017-0454-0.

45.

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

Dewey FE, Gusarova V, Dunbar RL, O'Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee IT, Liang KW, Guo X, Rotter JI, Chen YI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A.

N Engl J Med. 2017 Jul 20;377(3):211-221. doi: 10.1056/NEJMoa1612790. Epub 2017 May 24.

46.

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA.

J Mol Diagn. 2017 Jul;19(4):561-566. doi: 10.1016/j.jmoldx.2017.04.002. Epub 2017 May 11.

47.

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK.

Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4.

48.

The joint effect of air pollution exposure and copy number variation on risk for autism.

Kim D, Volk H, Girirajan S, Pendergrass S, Hall MA, Verma SS, Schmidt RJ, Hansen RL, Ghosh D, Ludena-Rodriguez Y, Kim K, Ritchie MD, Hertz-Picciotto I, Selleck SB.

Autism Res. 2017 Sep;10(9):1470-1480. doi: 10.1002/aur.1799. Epub 2017 Apr 27.

49.

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.

Fernández-Rhodes L, Gong J, Haessler J, Franceschini N, Graff M, Nishimura KK, Wang Y, Highland HM, Yoneyama S, Bush WS, Goodloe R, Ritchie MD, Crawford D, Gross M, Fornage M, Buzkova P, Tao R, Isasi C, Avilés-Santa L, Daviglus M, Mackey RH, Houston D, Gu CC, Ehret G, Nguyen KH, Lewis CE, Leppert M, Irvin MR, Lim U, Haiman CA, Le Marchand L, Schumacher F, Wilkens L, Lu Y, Bottinger EP, Loos RJL, Sheu WH, Guo X, Lee WJ, Hai Y, Hung YJ, Absher D, Wu IC, Taylor KD, Lee IT, Liu Y, Wang TD, Quertermous T, Juang JJ, Rotter JI, Assimes T, Hsiung CA, Chen YI, Prentice R, Kuller LH, Manson JE, Kooperberg C, Smokowski P, Robinson WR, Gordon-Larsen P, Li R, Hindorff L, Buyske S, Matise TC, Peters U, North KE.

Hum Genet. 2017 Jun;136(6):771-800. doi: 10.1007/s00439-017-1787-6. Epub 2017 Apr 8.

50.

Celebrating parasites.

Greene CS, Garmire LX, Gilbert JA, Ritchie MD, Hunter LE.

Nat Genet. 2017 Mar 30;49(4):483-484. doi: 10.1038/ng.3830. No abstract available.

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