Publications
2019

Personalized Medicine and the Power of Electronic Health Records
Abul-Husn NS, Kenny EE.
Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039. Review.
PMID: 30901549
Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.
Nat Commun. 2019 Feb 20;10(1):880. doi: 10.1038/s41467-019-08469-7.
PMID: 30787307
Hidden
2018
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
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.
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.
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.
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.
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.
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
2017
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.
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
2016
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