Publications

Worldwide Frequencies of APOL1 Renal Risk Variants.
Nadkarni GN, Gignoux CR, Sorokin EP, Daya M, Rahman R, Barnes KC, Wassel CL, Kenny EE.
N Engl J Med. 2018 Dec 27;379(26):2571-2572. doi: 10.1056/NEJMc1800748. No abstract available.
PMID: 30586505

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.
Bonnemaijer PWM, Iglesias AI, Nadkarni GN, Sanyiwa AJ, Hassan HG, Cook C; GIGA Study Group, Simcoe M, Taylor KD, Schurmann C, Belbin GM, Kenny EE, Bottinger EP, van de Laar S, Wiliams SEI, Akafo SK, Ashaye AO, Zangwill LM, Girkin CA, Ng MCY, Rotter JI, Weinreb RN, Li Z, Allingham RR; Eyes of Africa Genetics Consortium, Nag A, Hysi PG, Meester-Smoor MA, Wiggs JL; NEIGHBORHOOD Consortium, Hauser MA, Hammond CJ, Lemij HG, Loos RJF, van Duijn CM, Thiadens AAHJ, Klaver CCW.
Hum Genet. 2018 Oct;137(10):847-862. doi: 10.1007/s00439-018-1943-7. Epub 2018 Oct 13.
PMID: 30317457

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.
PMID: 30646163

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.
Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.
PMID: 30193136

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies.
Wojcik GL, Fuchsberger C, Taliun D, Welch R, Martin AR, Shringarpure S, Carlson CS, Abecasis G, Kang HM, Boehnke M, Bustamante CD, Gignoux CR, Kenny EE.
G3 (Bethesda). 2018 Oct 3;8(10):3255-3267. doi: 10.1534/g3.118.200502.
PMID: 30131328

Genetic diversity in populations across Latin America: implications for population and medical genetic studies.
Belbin GM, Nieves-Colón MA, Kenny EE, Moreno-Estrada A, Gignoux CR.
Curr Opin Genet Dev. 2018 Dec;53:98-104. doi: 10.1016/j.gde.2018.07.006. Epub 2018 Aug 17. Review.
PMID: 30125792

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.
PMID: 30044860

Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Polubriaginof FCG, Vanguri R, Quinnies K, Belbin GM, Yahi A, Salmasian H, Lorberbaum T, Nwankwo V, Li L, Shervey MM, Glowe P, Ionita-Laza I, Simmerling M, Hripcsak G, Bakken S, Goldstein D, Kiryluk K, Kenny EE, Dudley J, Vawdrey DK, Tatonetti NP.
Cell. 2018 Jun 14;173(7):1692-1704.e11. doi: 10.1016/j.cell.2018.04.032. Epub 2018 May 17.
PMID: 29779949

Population structure in Argentina.
Muzzio M, Motti JMB, Paz Sepulveda PB, Yee MC, Cooke T, Santos MR, Ramallo V, Alfaro EL, Dipierri JE, Bailliet G, Bravi CM, Bustamante CD, Kenny EE.
PLoS One. 2018 May 1;13(5):e0196325. doi: 10.1371/journal.pone.0196325. eCollection 2018.
PMID: 29715266

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O’Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE.
N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191.
PMID: 29562163

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.
PMID: 29261187

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans.
Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Wellons M, Hartmann KE, Jones SF, Torstenson ES, Dickinson S, Ruiz-Narváez EA, Rohland N, Allen A, Reich D, Tandon A, Pasaniuc B, Mancuso N, Im HK, Hinds DA, Palmer JR, Rosenberg L, Denny JC, Roden DM, Stewart EA, Morton CC, Kenny EE, Edwards TL, Velez Edwards DR.
Hum Genet. 2017 Nov;136(11-12):1497-1498. doi: 10.1007/s00439-017-1846-z.
PMID: 28975356

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
Belbin GM, Odgis J, Sorokin EP, Yee MC, Kohli S, Glicksberg BS, Gignoux CR, Wojcik GL, Van Vleck T, Jeff JM, Linderman M, Schurmann C, Ruderfer D, Cai X, Merkelson A, Justice AE, Young KL, Graff M, North KE, Peters U, James R, Hindorff L, Kornreich R, Edelmann L, Gottesman O, Stahl EE, Cho JH, Loos RJ, Bottinger EP, Nadkarni GN, Abul-Husn NS, Kenny EE.
Elife. 2017 Sep 12;6. pii: e25060. doi: 10.7554/eLife.25060.
PMID: 28895531

A multi-stage genome-wide association study of uterine fibroids in African Americans.
Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Wellons M, Hartmann KE, Jones SF, Torstenson ES, Dickinson S, Ruiz-Narváez EA, Rohland N, Allen A, Reich D, Tandon A, Pasaniuc B, Mancuso N, Im HK, Hinds DA, Palmer JR, Rosenberg L, Denny JC, Roden DM, Stewart EA, Morton CC, Kenny EE, Edwards TL, Velez Edwards DR.
Hum Genet. 2017 Oct;136(10):1363-1373. doi: 10.1007/s00439-017-1836-1. Epub 2017 Aug 23. Erratum in: Hum Genet. 2017 Oct 4;:.
PMID: 28836065

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.
Scott SA, Owusu Obeng A, Botton MR, Yang Y, Scott ER, Ellis SB, Wallsten R, Kaszemacher T, Zhou X, Chen R, Nicoletti P, Naik H, Kenny EE, Vega A, Waite E, Diaz GA, Dudley J, Halperin JL, Edelmann L, Kasarskis A, Hulot JS, Peter I, Bottinger EP, Hirschhorn K, Sklar P, Cho JH, Desnick RJ, Schadt EE.
Pharmacogenomics. 2017 Oct;18(15):1381-1386. doi: 10.2217/pgs-2017-0137. Epub 2017 Oct 6. Review.
PMID: 28982267

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
Belbin GM, Odgis J, Sorokin EP, Yee MC, Kohli S, Glicksberg BS, Gignoux CR, Wojcik GL, Van Vleck T, Jeff JM, Linderman M, Schurmann C, Ruderfer D, Cai X, Merkelson A, Justice AE, Young KL, Graff M, North KE, Peters U, James R, Hindorff L, Kornreich R, Edelmann L, Gottesman O, Stahl EE, Cho JH, Loos RJ, Bottinger EP, Nadkarni GN, Abul-Husn NS, Kenny EE.
Elife. 2017 Sep 12;6. pii: e25060. doi: 10.7554/eLife.25060.
PMID: 28895531

Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience.
Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Kitchner T, Peterson JF, Rasmussen LV, Smith ME, Stallings S, Williams MS, Wolf WA, Prows CA.
Pharmacogenomics. 2017 Jul;18(10):1013-1025. doi: 10.2217/pgs-2017-0038. Epub 2017 Jun 22.
PMID: 28639489

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome.
Johnston HR, Hu YJ, Gao J, O’Connor TD, Abecasis GR, Wojcik GL, Gignoux CR, Gourraud PA, Lizee A, Hansen M, Genuario R, Bullis D, Lawley C, Kenny EE, Bustamante C, Beaty TH, Mathias RA, Barnes KC, Qin ZS; CAAPA Consortium.
Sci Rep. 2017 Apr 21;7:46398. doi: 10.1038/srep46398.
PMID: 28429804

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE.
Am J Hum Genet. 2017 Apr 6;100(4):635-649. doi: 10.1016/j.ajhg.2017.03.004. Epub 2017 Mar 30.
PMID: 28366442

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans.
Nadkarni GN, Galarneau G, Ellis SB, Nadukuru R, Zhang J, Scott SA, Schurmann C, Li R, Rasmussen-Torvik LJ, Kho AN, Hayes MG, Pacheco JA, Manolio TA, Chisholm RL, Roden DM, Denny JC, Kenny EE, Bottinger EP.
J Am Coll Cardiol. 2017 Mar 28;69(12):1564-1574. doi: 10.1016/j.jacc.2017.01.040.
PMID: 28335839

iGAS: A framework for using electronic intraoperative medical records for genomic discovery.
Levin MA, Joseph TT, Jeff JM, Nadukuru R, Ellis SB, Bottinger EP, Kenny EE.
J Biomed Inform. 2017 Mar;67:80-89. doi: 10.1016/j.jbi.2017.02.005. Epub 2017 Feb 11.
PMID: 28193464

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O’Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF.
Science. 2016 Dec 23;354(6319). pii: aaf7000. doi: 10.1126/science.aaf7000.
PMID: 28008010

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O’Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ.
Science. 2016 Dec 23;354(6319). pii: aaf6814. doi: 10.1126/science.aaf6814.
PMID: 28008009

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array.
Bien SA, Wojcik GL, Zubair N, Gignoux CR, Martin AR, Kocarnik JM, Martin LW, Buyske S, Haessler J, Walker RW, Cheng I, Graff M, Xia L, Franceschini N, Matise T, James R, Hindorff L, Le Marchand L, North KE, Haiman CA, Peters U, Loos RJ, Kooperberg CL, Bustamante CD, Kenny EE, Carlson CS; PAGE Study.
PLoS One. 2016 Dec 14;11(12):e0167758. doi: 10.1371/journal.pone.0167758. eCollection 2016.
PMID: 27973554

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.
Mathias RA, Taub MA, Gignoux CR, Fu W, Musharoff S, O’Connor TD, Vergara C, Torgerson DG, Pino-Yanes M, Shringarpure SS, Huang L, Rafaels N, Boorgula MP, Johnston HR, Ortega VE, Levin AM, Song W, Torres R, Padhukasahasram B, Eng C, Mejia-Mejia DA, Ferguson T, Qin ZS, Scott AF, Yazdanbakhsh M, Wilson JG, Marrugo J, Lange LA, Kumar R, Avila PC, Williams LK, Watson H, Ware LB, Olopade C, Olopade O, Oliveira R, Ober C, Nicolae DL, Meyers D, Mayorga A, Knight-Madden J, Hartert T, Hansel NN, Foreman MG, Ford JG, Faruque MU, Dunston GM, Caraballo L, Burchard EG, Bleecker E, Araujo MI, Herrera-Paz EF, Gietzen K, Grus WE, Bamshad M, Bustamante CD, Kenny EE, Hernandez RD, Beaty TH, Ruczinski I, Akey J; CAAPA, Barnes KC.
Nat Commun. 2016 Oct 11;7:12522. doi: 10.1038/ncomms12522.
PMID: 27725671

The Great Migration and African-American Genomic Diversity.
Baharian S, Barakatt M, Gignoux CR, Shringarpure S, Errington J, Blot WJ, Bustamante CD, Kenny EE, Williams SM, Aldrich MC, Gravel S.
PLoS Genet. 2016 May 27;12(5):e1006059. doi: 10.1371/journal.pgen.1006059. eCollection 2016 May.
PMID: 27232753

Medical student preparedness for an era of personalized medicine: findings from one US medical school.
Eden C, Johnson KW, Gottesman O, Bottinger EP, Abul-Husn NS.
Per Med. 2016 Mar;13(2):129-141.
PMID: 27528879

GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data.
Cooke TF, Yee MC, Muzzio M, Sockell A, Bell R, Cornejo OE, Kelley JL, Bailliet G, Bravi CM, Bustamante CD, Kenny EE.
PLoS Genet. 2016 Feb 1;12(2):e1005631. doi: 10.1371/journal.pgen.1005631. eCollection 2016 Feb.
PMID: 26828719

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM.
JAMA. 2016 Jan 5;315(1):47-57. doi: 10.1001/jama.2015.17701.
PMID: 26746457