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Items: 1 to 50 of 405

1.

Pharmacogenomic Polygenic Response Score Predicts Ischemic Events and Cardiovascular Mortality in Clopidogrel-Treated Patients.

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

Eur Heart J Cardiovasc Pharmacother. 2019 Sep 3. pii: pvz045. doi: 10.1093/ehjcvp/pvz045. [Epub ahead of print]

PMID:
31504375
2.

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y.

J Med Genet. 2019 Sep 9. pii: jmedgenet-2019-106303. doi: 10.1136/jmedgenet-2019-106303. [Epub ahead of print]

PMID:
31501241
3.

Self-Reported Sleep Duration and Pattern in Old Order Amish and Non-Amish Adults.

Zhang M, Ryan KA, Wickwire E, Postolache TT, Xu H, Daue M, Snitker S, Pollin TI, Shuldiner AR, Mitchell BD.

J Clin Sleep Med. 2019 Aug 21. pii: jc-19-00001. [Epub ahead of print]

PMID:
31482803
4.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD; Regeneron Genetics Center, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H.

J Clin Immunol. 2019 May;39(4):430-439. doi: 10.1007/s10875-019-00631-6. Epub 2019 May 11.

PMID:
31079270
5.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center, Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H.

J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22.

PMID:
30903008
6.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.

Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.

J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]

PMID:
30858171
7.

Polyherbal dietary supplementation for prediabetic adults: study protocol for a randomized controlled trial.

Feinberg T, Wieland LS, Miller LE, Munir K, Pollin TI, Shuldiner AR, Amoils S, Gallagher L, Bahr-Robertson M, D'Adamo CR.

Trials. 2019 Jan 7;20(1):24. doi: 10.1186/s13063-018-3032-6.

8.

Increased usual physical activity is associated with a blunting of the triglyceride response to a high-fat meal.

Mitchell BD, Kalra G, Ryan KA, Zhang M, Sztalryd C, Steinle NI, Taylor SI, Snitker S, Lewis JP, Miller M, Shuldiner AR, Xu H.

J Clin Lipidol. 2019 Jan - Feb;13(1):109-114. doi: 10.1016/j.jacl.2018.11.006. Epub 2018 Nov 20.

PMID:
30553757
9.

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, Van der Most PJ, Tanaka T, Naderi E, Rose LM, Wu Y, Karlsson R, Barbalic M, Lin H, Pool R, Zhu G, Macé A, Sidore C, Trompet S, Mangino M, Sabater-Lleal M, Kemp JP, Abbasi A, Kacprowski T, Verweij N, Smith AV, Huang T, Marzi C, Feitosa MF, Lohman KK, Kleber ME, Milaneschi Y, Mueller C, Huq M, Vlachopoulou E, Lyytikäinen LP, Oldmeadow C, Deelen J, Perola M, Zhao JH, Feenstra B; LifeLines Cohort Study, Amini M; CHARGE Inflammation Working Group, Lahti J, Schraut KE, Fornage M, Suktitipat B, Chen WM, Li X, Nutile T, Malerba G, Luan J, Bak T, Schork N, Del Greco M F, Thiering E, Mahajan A, Marioni RE, Mihailov E, Eriksson J, Ozel AB, Zhang W, Nethander M, Cheng YC, Aslibekyan S, Ang W, Gandin I, Yengo L, Portas L, Kooperberg C, Hofer E, Rajan KB, Schurmann C, den Hollander W, Ahluwalia TS, Zhao J, Draisma HHM, Ford I, Timpson N, Teumer A, Huang H, Wahl S, Liu Y, Huang J, Uh HW, Geller F, Joshi PK, Yanek LR, Trabetti E, Lehne B, Vozzi D, Verbanck M, Biino G, Saba Y, Meulenbelt I, O'Connell JR, Laakso M, Giulianini F, Magnusson PKE, Ballantyne CM, Hottenga JJ, Montgomery GW, Rivadineira F, Rueedi R, Steri M, Herzig KH, Stott DJ, Menni C, Frånberg M, St Pourcain B, Felix SB, Pers TH, Bakker SJL, Kraft P, Peters A, Vaidya D, Delgado G, Smit JH, Großmann V, Sinisalo J, Seppälä I, Williams SR, Holliday EG, Moed M, Langenberg C, Räikkönen K, Ding J, Campbell H, Sale MM, Chen YI, James AL, Ruggiero D, Soranzo N, Hartman CA, Smith EN, Berenson GS, Fuchsberger C, Hernandez D, Tiesler CMT, Giedraitis V, Liewald D, Fischer K, Mellström D, Larsson A, Wang Y, Scott WR, Lorentzon M, Beilby J, Ryan KA, Pennell CE, Vuckovic D, Balkau B, Concas MP, Schmidt R, Mendes de Leon CF, Bottinger EP, Kloppenburg M, Paternoster L, Boehnke M, Musk AW, Willemsen G, Evans DM, Madden PAF, Kähönen M, Kutalik Z, Zoledziewska M, Karhunen V, Kritchevsky SB, Sattar N, Lachance G, Clarke R, Harris TB, Raitakari OT, Attia JR, van Heemst D, Kajantie E, Sorice R, Gambaro G, Scott RA, Hicks AA, Ferrucci L, Standl M, Lindgren CM, Starr JM, Karlsson M, Lind L, Li JZ, Chambers JC, Mori TA, de Geus EJCN, Heath AC, Martin NG, Auvinen J, Buckley BM, de Craen AJM, Waldenberger M, Strauch K, Meitinger T, Scott RJ, McEvoy M, Beekman M, Bombieri C, Ridker PM, Mohlke KL, Pedersen NL, Morrison AC, Boomsma DI, Whitfield JB, Strachan DP, Hofman A, Vollenweider P, Cucca F, Jarvelin MR, Jukema JW, Spector TD, Hamsten A, Zeller T, Uitterlinden AG, Nauck M, Gudnason V, Qi L, Grallert H, Borecki IB, Rotter JI, März W, Wild PS, Lokki ML, Boyle M, Salomaa V, Melbye M, Eriksson JG, Wilson JF, Penninx BWJH, Becker DM, Worrall BB, Gibson G, Krauss RM, Ciullo M, Zaza G, Wareham NJ, Oldehinkel AJ, Palmer LJ, Murray SS, Pramstaller PP, Bandinelli S, Heinrich J, Ingelsson E, Deary IJ, Mägi R, Vandenput L, van der Harst P, Desch KC, Kooner JS, Ohlsson C, Hayward C, Lehtimäki T, Shuldiner AR, Arnett DK, Beilin LJ, Robino A, Froguel P, Pirastu M, Jess T, Koenig W, Loos RJF, Evans DA, Schmidt H, Smith GD, Slagboom PE, Eiriksdottir G, Morris AP, Psaty BM, Tracy RP, Nolte IM, Boerwinkle E, Visvikis-Siest S, Reiner AP, Gross M, Bis JC, Franke L, Franco OH, Benjamin EJ, Chasman DI, Dupuis J, Snieder H, Dehghan A, Alizadeh BZ.

Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009.

10.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK.

Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087.

11.

Genome-wide association analysis of common genetic variants of resistant hypertension.

El Rouby N, McDonough CW, Gong Y, McClure LA, Mitchell BD, Horenstein RB, Talbert RL, Crawford DC; eMERGE network, Gitzendanner MA, Takahashi A, Tanaka T, Kubo M, Pepine CJ, Cooper-DeHoff RM, Benavente OR, Shuldiner AR, Johnson JA.

Pharmacogenomics J. 2019 Jun;19(3):295-304. doi: 10.1038/s41397-018-0049-x. Epub 2018 Sep 20.

PMID:
30237584
12.

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.

13.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN.

J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6.

PMID:
29875123
14.

Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.

Kleinberger JW, Copeland KC, Gandica RG, Haymond MW, Levitsky LL, Linder B, Shuldiner AR, Tollefsen S, White NH, Pollin TI.

Genet Med. 2018 Jun;20(6):583-590. doi: 10.1038/gim.2017.150. Epub 2017 Oct 12.

15.

Evaluation of WISP1 as a candidate gene for bone mineral density in the Old Order Amish.

Wang X, Salimi S, Deng Z, Perry J, Ryan KA, Li Z, Liu D, Streeten E, Shuldiner AR, Fu M.

Sci Rep. 2018 May 8;8(1):7141. doi: 10.1038/s41598-018-25272-4.

16.

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.

Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, Kirchner HL, Leader JB, Murray MF, Ledbetter DH, Shuldiner AR, Yancoupolos GD, Dewey FE, Carey DJ, Overton JD, Baras A, Habegger L, Reid JG.

Am J Hum Genet. 2018 May 3;102(5):874-889. doi: 10.1016/j.ajhg.2018.03.012.

17.

Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations.

Hou L, Kember RL, Roach JC, O'Connell JR, Craig DW, Bucan M, Scott WK, Pericak-Vance M, Haines JL, Crawford MH, Shuldiner AR, McMahon FJ.

Sci Rep. 2018 Apr 25;8(1):6771. doi: 10.1038/s41598-018-24604-8.

18.

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.

19.

An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels.

Montasser ME, O'Hare EA, Wang X, Howard AD, McFarland R, Perry JA, Ryan KA, Rice K, Jaquish CE, Shuldiner AR, Miller M, Mitchell BD, Zaghloul NA, Chang YC.

Circulation. 2018 Sep 25;138(13):1343-1355. doi: 10.1161/CIRCULATIONAHA.118.034016.

PMID:
29593015
20.

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.

21.

Epigenetic Signature of Impaired Fasting Glucose in the Old Order Amish.

Montasser ME, Cheng YC, Tanner K, Shuldiner AR, O'Connell JR.

J Clin Epigenet. 2017;3(2). pii: 18. doi: 10.21767/2472-1158.100052. Epub 2017 Jun 16.

22.

Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation.

Chen MH, Yanek LR, Backman JD, Eicher JD, Huffman JE, Ben-Shlomo Y, Beswick AD, Yerges-Armstrong LM, Shuldiner AR, O'Connell JR, Mathias RA, Becker DM, Becker LC, Lewis JP, Johnson AD, Faraday N.

Platelets. 2019;30(2):164-173. doi: 10.1080/09537104.2017.1384538. Epub 2017 Nov 29.

PMID:
29185836
23.

Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.

Cavallari LH, Lee CR, Beitelshees AL, Cooper-DeHoff RM, Duarte JD, Voora D, Kimmel SE, McDonough CW, Gong Y, Dave CV, Pratt VM, Alestock TD, Anderson RD, Alsip J, Ardati AK, Brott BC, Brown L, Chumnumwat S, Clare-Salzler MJ, Coons JC, Denny JC, Dillon C, Elsey AR, Hamadeh IS, Harada S, Hillegass WB, Hines L, Horenstein RB, Howell LA, Jeng LJB, Kelemen MD, Lee YM, Magvanjav O, Montasser M, Nelson DR, Nutescu EA, Nwaba DC, Pakyz RE, Palmer K, Peterson JF, Pollin TI, Quinn AH, Robinson SW, Schub J, Skaar TC, Smith DM, Sriramoju VB, Starostik P, Stys TP, Stevenson JM, Varunok N, Vesely MR, Wake DT, Weck KE, Weitzel KW, Wilke RA, Willig J, Zhao RY, Kreutz RP, Stouffer GA, Empey PE, Limdi NA, Shuldiner AR, Winterstein AG, Johnson JA; IGNITE Network.

JACC Cardiovasc Interv. 2018 Jan 22;11(2):181-191. doi: 10.1016/j.jcin.2017.07.022. Epub 2017 Nov 1.

24.

Lipid Metabolism, Abdominal Adiposity, and Cerebral Health in the Amish.

Ryan M, Kochunov P, Rowland LM, Mitchell BD, Wijtenburg SA, Fieremans E, Veraart J, Novikov DS, Du X, Adhikari B, Fisseha F, Bruce H, Chiappelli J, Sampath H, Ament S, O'Connell J, Shuldiner AR, Hong LE.

Obesity (Silver Spring). 2017 Nov;25(11):1876-1880. doi: 10.1002/oby.21946. Epub 2017 Aug 20.

25.

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, Qi Q, Ngwa JS, Renström F, Quaye L, Eicher JD, Hayes JE, Cornelis M, Kutalik Z, Lim E, Luan J, Huffman JE, Zhang W, Zhao W, Griffin PJ, Haller T, Ahmad S, Marques-Vidal PM, Bien S, Yengo L, Teumer A, Smith AV, Kumari M, Harder MN, Justesen JM, Kleber ME, Hollensted M, Lohman K, Rivera NV, Whitfield JB, Zhao JH, Stringham HM, Lyytikäinen LP, Huppertz C, Willemsen G, Peyrot WJ, Wu Y, Kristiansson K, Demirkan A, Fornage M, Hassinen M, Bielak LF, Cadby G, Tanaka T, Mägi R, van der Most PJ, Jackson AU, Bragg-Gresham JL, Vitart V, Marten J, Navarro P, Bellis C, Pasko D, Johansson Å, Snitker S, Cheng YC, Eriksson J, Lim U, Aadahl M, Adair LS, Amin N, Balkau B, Auvinen J, Beilby J, Bergman RN, Bergmann S, Bertoni AG, Blangero J, Bonnefond A, Bonnycastle LL, Borja JB, Brage S, Busonero F, Buyske S, Campbell H, Chines PS, Collins FS, Corre T, Smith GD, Delgado GE, Dueker N, Dörr M, Ebeling T, Eiriksdottir G, Esko T, Faul JD, Fu M, Færch K, Gieger C, Gläser S, Gong J, Gordon-Larsen P, Grallert H, Grammer TB, Grarup N, van Grootheest G, Harald K, Hastie ND, Havulinna AS, Hernandez D, Hindorff L, Hocking LJ, Holmens OL, Holzapfel C, Hottenga JJ, Huang J, Huang T, Hui J, Huth C, Hutri-Kähönen N, James AL, Jansson JO, Jhun MA, Juonala M, Kinnunen L, Koistinen HA, Kolcic I, Komulainen P, Kuusisto J, Kvaløy K, Kähönen M, Lakka TA, Launer LJ, Lehne B, Lindgren CM, Lorentzon M, Luben R, Marre M, Milaneschi Y, Monda KL, Montgomery GW, De Moor MHM, Mulas A, Müller-Nurasyid M, Musk AW, Männikkö R, Männistö S, Narisu N, Nauck M, Nettleton JA, Nolte IM, Oldehinkel AJ, Olden M, Ong KK, Padmanabhan S, Paternoster L, Perez J, Perola M, Peters A, Peters U, Peyser PA, Prokopenko I, Puolijoki H, Raitakari OT, Rankinen T, Rasmussen-Torvik LJ, Rawal R, Ridker PM, Rose LM, Rudan I, Sarti C, Sarzynski MA, Savonen K, Scott WR, Sanna S, Shuldiner AR, Sidney S, Silbernagel G, Smith BH, Smith JA, Snieder H, Stančáková A, Sternfeld B, Swift AJ, Tammelin T, Tan ST, Thorand B, Thuillier D, Vandenput L, Vestergaard H, van Vliet-Ostaptchouk JV, Vohl MC, Völker U, Waeber G, Walker M, Wild S, Wong A, Wright AF, Zillikens MC, Zubair N, Haiman CA, Lemarchand L, Gyllensten U, Ohlsson C, Hofman A, Rivadeneira F, Uitterlinden AG, Pérusse L, Wilson JF, Hayward C, Polasek O, Cucca F, Hveem K, Hartman CA, Tönjes A, Bandinelli S, Palmer LJ, Kardia SLR, Rauramaa R, Sørensen TIA, Tuomilehto J, Salomaa V, Penninx BWJH, de Geus EJC, Boomsma DI, Lehtimäki T, Mangino M, Laakso M, Bouchard C, Martin NG, Kuh D, Liu Y, Linneberg A, März W, Strauch K, Kivimäki M, Harris TB, Gudnason V, Völzke H, Qi L, Järvelin MR, Chambers JC, Kooner JS, Froguel P, Kooperberg C, Vollenweider P, Hallmans G, Hansen T, Pedersen O, Metspalu A, Wareham NJ, Langenberg C, Weir DR, Porteous DJ, Boerwinkle E, Chasman DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium, Abecasis GR, Barroso I, McCarthy MI, Frayling TM, O'Connell JR, van Duijn CM, Boehnke M, Heid IM, Mohlke KL, Strachan DP, Fox CS, Liu CT, Hirschhorn JN, Klein RJ, Johnson AD, Borecki IB, Franks PW, North KE, Cupples LA, Loos RJF, Kilpeläinen TO.

PLoS Genet. 2017 Aug 23;13(8):e1006972. doi: 10.1371/journal.pgen.1006972. eCollection 2017 Aug.

26.

Genetic Variants of PEAR1 are Associated with Platelet Function and Antiplatelet Drug Efficacy: A Systematic Review and Meta-Analysis.

Xiang Q, Zhou S, Lewis JP, Shuldiner AR, Ren G, Cui Y.

Curr Pharm Des. 2017;23(44):6815-6827. doi: 10.2174/1381612823666170817122043.

PMID:
28820077
27.

A population-specific reference panel empowers genetic studies of Anabaptist populations.

Hou L, Kember RL, Roach JC, O'Connell JR, Craig DW, Bucan M, Scott WK, Pericak-Vance M, Haines JL, Crawford MH, Shuldiner AR, McMahon FJ.

Sci Rep. 2017 Jul 20;7(1):6079. doi: 10.1038/s41598-017-05445-3. Erratum in: Sci Rep. 2018 Apr 25;8(1):6771.

28.

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.

Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.

PMID:
28726809
29.

The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature.

Ben-Avraham D, Govindaraju DR, Budagov T, Fradin D, Durda P, Liu B, Ott S, Gutman D, Sharvit L, Kaplan R, Bougnères P, Reiner A, Shuldiner AR, Cohen P, Barzilai N, Atzmon G.

Sci Adv. 2017 Jun 16;3(6):e1602025. doi: 10.1126/sciadv.1602025. eCollection 2017 Jun.

30.

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.

31.

Heritability of plasma neopterin levels in the Old Order Amish.

Raheja UK, Fuchs D, Lowry CA, Stephens SH, Pavlovich MA, Mohyuddin H, Yousufi H, Ryan KA, O'Connell J, Brenner LA, Punzalan C, Hoisington AJ, Nijjar GK, Groer M, Shuldiner AR, Pollin TI, Stiller JW, Mitchell BD, Postolache TT.

J Neuroimmunol. 2017 Jun 15;307:37-41. doi: 10.1016/j.jneuroim.2017.02.016. Epub 2017 Feb 22.

PMID:
28495136
32.

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.

Billings LK, Jablonski KA, Warner AS, Cheng YC, McAteer JB, Tipton L, Shuldiner AR, Ehrmann DA, Manning AK, Dabelea D, Franks PW, Kahn SE, Pollin TI, Knowler WC, Altshuler D, Florez JC; Diabetes Prevention Program Research Group.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2678-2689. doi: 10.1210/jc.2016-3429.

33.

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, Qi Q, Ngwa JS, Renström F, Quaye L, Eicher JD, Hayes JE, Cornelis M, Kutalik Z, Lim E, Luan J, Huffman JE, Zhang W, Zhao W, Griffin PJ, Haller T, Ahmad S, Marques-Vidal PM, Bien S, Yengo L, Teumer A, Smith AV, Kumari M, Harder MN, Justesen JM, Kleber ME, Hollensted M, Lohman K, Rivera NV, Whitfield JB, Zhao JH, Stringham HM, Lyytikäinen LP, Huppertz C, Willemsen G, Peyrot WJ, Wu Y, Kristiansson K, Demirkan A, Fornage M, Hassinen M, Bielak LF, Cadby G, Tanaka T, Mägi R, van der Most PJ, Jackson AU, Bragg-Gresham JL, Vitart V, Marten J, Navarro P, Bellis C, Pasko D, Johansson Å, Snitker S, Cheng YC, Eriksson J, Lim U, Aadahl M, Adair LS, Amin N, Balkau B, Auvinen J, Beilby J, Bergman RN, Bergmann S, Bertoni AG, Blangero J, Bonnefond A, Bonnycastle LL, Borja JB, Brage S, Busonero F, Buyske S, Campbell H, Chines PS, Collins FS, Corre T, Smith GD, Delgado GE, Dueker N, Dörr M, Ebeling T, Eiriksdottir G, Esko T, Faul JD, Fu M, Færch K, Gieger C, Gläser S, Gong J, Gordon-Larsen P, Grallert H, Grammer TB, Grarup N, van Grootheest G, Harald K, Hastie ND, Havulinna AS, Hernandez D, Hindorff L, Hocking LJ, Holmens OL, Holzapfel C, Hottenga JJ, Huang J, Huang T, Hui J, Huth C, Hutri-Kähönen N, James AL, Jansson JO, Jhun MA, Juonala M, Kinnunen L, Koistinen HA, Kolcic I, Komulainen P, Kuusisto J, Kvaløy K, Kähönen M, Lakka TA, Launer LJ, Lehne B, Lindgren CM, Lorentzon M, Luben R, Marre M, Milaneschi Y, Monda KL, Montgomery GW, De Moor MHM, Mulas A, Müller-Nurasyid M, Musk AW, Männikkö R, Männistö S, Narisu N, Nauck M, Nettleton JA, Nolte IM, Oldehinkel AJ, Olden M, Ong KK, Padmanabhan S, Paternoster L, Perez J, Perola M, Peters A, Peters U, Peyser PA, Prokopenko I, Puolijoki H, Raitakari OT, Rankinen T, Rasmussen-Torvik LJ, Rawal R, Ridker PM, Rose LM, Rudan I, Sarti C, Sarzynski MA, Savonen K, Scott WR, Sanna S, Shuldiner AR, Sidney S, Silbernagel G, Smith BH, Smith JA, Snieder H, Stančáková A, Sternfeld B, Swift AJ, Tammelin T, Tan ST, Thorand B, Thuillier D, Vandenput L, Vestergaard H, van Vliet-Ostaptchouk JV, Vohl MC, Völker U, Waeber G, Walker M, Wild S, Wong A, Wright AF, Zillikens MC, Zubair N, Haiman CA, Lemarchand L, Gyllensten U, Ohlsson C, Hofman A, Rivadeneira F, Uitterlinden AG, Pérusse L, Wilson JF, Hayward C, Polasek O, Cucca F, Hveem K, Hartman CA, Tönjes A, Bandinelli S, Palmer LJ, Kardia SLR, Rauramaa R, Sørensen TIA, Tuomilehto J, Salomaa V, Penninx BWJH, de Geus EJC, Boomsma DI, Lehtimäki T, Mangino M, Laakso M, Bouchard C, Martin NG, Kuh D, Liu Y, Linneberg A, März W, Strauch K, Kivimäki M, Harris TB, Gudnason V, Völzke H, Qi L, Järvelin MR, Chambers JC, Kooner JS, Froguel P, Kooperberg C, Vollenweider P, Hallmans G, Hansen T, Pedersen O, Metspalu A, Wareham NJ, Langenberg C, Weir DR, Porteous DJ, Boerwinkle E, Chasman DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium, Abecasis GR, Barroso I, McCarthy MI, Frayling TM, O'Connell JR, van Duijn CM, Boehnke M, Heid IM, Mohlke KL, Strachan DP, Fox CS, Liu CT, Hirschhorn JN, Klein RJ, Johnson AD, Borecki IB, Franks PW, North KE, Cupples LA, Loos RJF, Kilpeläinen TO.

PLoS Genet. 2017 Apr 27;13(4):e1006528. doi: 10.1371/journal.pgen.1006528. eCollection 2017 Apr. Erratum in: PLoS Genet. 2017 Aug 23;13(8):e1006972.

34.

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.

Xu H, Ryan KA, Jaworek TJ, Southam L, Reid JG, Overton JD, Baras A, Puurunen MK, Zeggini E, Taylor SI, Shuldiner AR, Mitchell BD.

Diabetes. 2017 Jul;66(7):2054-2058. doi: 10.2337/db17-0173. Epub 2017 Apr 20.

35.

Gender differences in first and secondhand smoke exposure, spirometric lung function and cardiometabolic health in the old order Amish: A novel population without female smoking.

Reed RM, Dransfield MT, Eberlein M, Miller M, Netzer G, Pavlovich M, Pollin TI, Scharf SM, Shuldiner AR, Sin D, Mitchell BD.

PLoS One. 2017 Mar 31;12(3):e0174354. doi: 10.1371/journal.pone.0174354. eCollection 2017.

36.

Pharmacogenetic Associations of β1-Adrenergic Receptor Polymorphisms With Cardiovascular Outcomes in the SPS3 Trial (Secondary Prevention of Small Subcortical Strokes).

Magvanjav O, McDonough CW, Gong Y, McClure LA, Talbert RL, Horenstein RB, Shuldiner AR, Benavente OR, Mitchell BD, Johnson JA; NINDS SiGN (Stroke Genetics Network).

Stroke. 2017 May;48(5):1337-1343. doi: 10.1161/STROKEAHA.116.015936. Epub 2017 Mar 28.

37.

Genome-wide analysis of clopidogrel active metabolite levels identifies novel variants that influence antiplatelet response.

Backman JD, O'Connell JR, Tanner K, Peer CJ, Figg WD, Spencer SD, Mitchell BD, Shuldiner AR, Yerges-Armstrong LM, Horenstein RB, Lewis JP.

Pharmacogenet Genomics. 2017 Apr;27(4):159-163. doi: 10.1097/FPC.0000000000000272.

38.

Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.

Tise CG, Anforth LE, Zhou AE, Perry JA, McArdle PF, Streeten EA, Shuldiner AR, Yerges-Armstrong LM.

Mol Genet Metab Rep. 2017 Jan 27;10:84-91. doi: 10.1016/j.ymgmr.2017.01.005. eCollection 2017 Mar.

39.

CPT1A methylation is associated with plasma adiponectin.

Aslibekyan S, Do AN, Xu H, Li S, Irvin MR, Zhi D, Tiwari HK, Absher DM, Shuldiner AR, Zhang T, Chen W, Tanner K, Hong C, Mitchell BD, Berenson G, Arnett DK.

Nutr Metab Cardiovasc Dis. 2017 Mar;27(3):225-233. doi: 10.1016/j.numecd.2016.11.004. Epub 2016 Nov 23.

40.

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems.

Luzum JA, Pakyz RE, Elsey AR, Haidar CE, Peterson JF, Whirl-Carrillo M, Handelman SK, Palmer K, Pulley JM, Beller M, Schildcrout JS, Field JR, Weitzel KW, Cooper-DeHoff RM, Cavallari LH, O'Donnell PH, Altman RB, Pereira N, Ratain MJ, Roden DM, Embi PJ, Sadee W, Klein TE, Johnson JA, Relling MV, Wang L, Weinshilboum RM, Shuldiner AR, Freimuth RR; Pharmacogenomics Research Network Translational Pharmacogenetics Program.

Clin Pharmacol Ther. 2017 Sep;102(3):502-510. doi: 10.1002/cpt.630. Epub 2017 Jun 9.

41.

TM6SF2 rs58542926 impacts lipid processing in liver and small intestine.

O'Hare EA, Yang R, Yerges-Armstrong LM, Sreenivasan U, McFarland R, Leitch CC, Wilson MH, Narina S, Gorden A, Ryan KA, Shuldiner AR, Farber SA, Wood GC, Still CD, Gerhard GS, Robishaw JD, Sztalryd C, Zaghloul NA.

Hepatology. 2017 May;65(5):1526-1542. doi: 10.1002/hep.29021. Epub 2017 Mar 22.

42.

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
43.

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
44.

The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations.

D'Adamo CR, Dawson VJ, Ryan KA, Yerges-Armstrong LM, Semba RD, Steinle NI, Mitchell BD, Shuldiner AR, McArdle PF.

J Nutrigenet Nutrigenomics. 2016;9(5-6):254-264. doi: 10.1159/000452890. Epub 2016 Dec 22.

45.

Variants in ANGPTL4 and the Risk of Coronary Artery Disease.

Dewey FE, Gromada J, Shuldiner AR.

N Engl J Med. 2016 Dec 8;375(23):2305-2306. doi: 10.1056/NEJMc1607380. No abstract available.

PMID:
27959690
46.

Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.

Chu AY, Deng X, Fisher VA, Drong A, Zhang Y, Feitosa MF, Liu CT, Weeks O, Choh AC, Duan Q, Dyer TD, Eicher JD, Guo X, Heard-Costa NL, Kacprowski T, Kent JW Jr, Lange LA, Liu X, Lohman K, Lu L, Mahajan A, O'Connell JR, Parihar A, Peralta JM, Smith AV, Zhang Y, Homuth G, Kissebah AH, Kullberg J, Laqua R, Launer LJ, Nauck M, Olivier M, Peyser PA, Terry JG, Wojczynski MK, Yao J, Bielak LF, Blangero J, Borecki IB, Bowden DW, Carr JJ, Czerwinski SA, Ding J, Friedrich N, Gudnason V, Harris TB, Ingelsson E, Johnson AD, Kardia SL, Langefeld CD, Lind L, Liu Y, Mitchell BD, Morris AP, Mosley TH Jr, Rotter JI, Shuldiner AR, Towne B, Völzke H, Wallaschofski H, Wilson JG, Allison M, Lindgren CM, Goessling W, Cupples LA, Steinhauser ML, Fox CS.

Nat Genet. 2017 Jan;49(1):125-130. doi: 10.1038/ng.3738. Epub 2016 Dec 5.

47.

Clopidogrel Improves Skin Microcirculatory Endothelial Function in Persons With Heightened Platelet Aggregation.

Salimi S, Lewis JP, Yerges-Armstrong LM, Mitchell BD, Saeed F, O'Connell JR, Perry JA, Ryan KA, Shuldiner AR, Parsa A.

J Am Heart Assoc. 2016 Oct 31;5(11). pii: e003751. Erratum in: J Am Heart Assoc. 2017 Feb 14;6(2):.

48.

User-centered design of multi-gene sequencing panel reports for clinicians.

Cutting E, Banchero M, Beitelshees AL, Cimino JJ, Fiol GD, Gurses AP, Hoffman MA, Jeng LJ, Kawamoto K, Kelemen M, Pincus HA, Shuldiner AR, Williams MS, Pollin TI, Overby CL.

J Biomed Inform. 2016 Oct;63:1-10. doi: 10.1016/j.jbi.2016.07.014. Epub 2016 Jul 14.

49.

Clopidogrel pharmacogenetics: Beyond candidate genes and genome-wide association studies.

Lewis JP, Shuldiner AR.

Clin Pharmacol Ther. 2017 Mar;101(3):323-325. doi: 10.1002/cpt.519. Epub 2016 Nov 22.

PMID:
27649515
50.

Identifying clinically relevant sources of variability: The clopidogrel challenge.

Samant S, Jiang XL, Peletier LA, Shuldiner AR, Horenstein RB, Lewis JP, Lesko LJ, Schmidt S.

Clin Pharmacol Ther. 2017 Feb;101(2):264-273. doi: 10.1002/cpt.459. Epub 2016 Oct 11.

PMID:
27557470

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