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Items: 50

1.

Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.

Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project, Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB.

Nature. 2019 Nov 4. doi: 10.1038/s41586-019-1726-x. [Epub ahead of print]

PMID:
31686056
2.

Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.

Evans TD, Zhang X, Clark RE, Alisio A, Song E, Zhang H, Reilly MP, Stitziel NO, Razani B.

Arterioscler Thromb Vasc Biol. 2019 Oct 24:ATVBAHA119313443. doi: 10.1161/ATVBAHA.119.313443. [Epub ahead of print]

PMID:
31645127
3.

Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ, Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, Stitziel NO, Laivuori H, Havulinna AS, Service SK, Salomaa V, Pirinen M; FinnGen Project, Jauhiainen M, Daly MJ, Freimer NB, Palotie A, Taskinen MR, Simons K, Ripatti S.

Nat Commun. 2019 Sep 24;10(1):4329. doi: 10.1038/s41467-019-11954-8.

4.

Exome sequencing of Finnish isolates enhances rare-variant association power.

Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project, Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB.

Nature. 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31. Erratum in: Nature. 2019 Nov 4;:.

PMID:
31367044
5.

Coronary Artery Disease Risk and Lipidomic Profiles Are Similar in Hyperlipidemias With Family History and Population-Ascertained Hyperlipidemias.

Rämö JT, Ripatti P, Tabassum R, Söderlund S, Matikainen N, Gerl MJ, Klose C, Surma MA, Stitziel NO, Havulinna AS, Pirinen M, Salomaa V, Freimer NB, Jauhiainen M, Palotie A, Taskinen MR, Simons K, Ripatti S.

J Am Heart Assoc. 2019 Jul 2;8(13):e012415. doi: 10.1161/JAHA.119.012415. Epub 2019 Jun 29.

6.

Intracellular retention of mutant lysyl oxidase leads to aortic dilation in response to increased hemodynamic stress.

Lee VS, Halabi CM, Broekelmann TJ, Trackman PC, Stitziel NO, Mecham RP.

JCI Insight. 2019 Jun 18;5. pii: 127748. doi: 10.1172/jci.insight.127748.

7.

Roadmap for a precision-medicine initiative in the Nordic region.

Njølstad PR, Andreassen OA, Brunak S, Børglum AD, Dillner J, Esko T, Franks PW, Freimer N, Groop L, Heimer H, Hougaard DM, Hovig E, Hveem K, Jalanko A, Kaprio J, Knudsen GP, Melbye M, Metspalu A, Mortensen PB, Palmgren J, Palotie A, Reed W, Stefánsson H, Stitziel NO, Sullivan PF, Thorsteinsdóttir U, Vaudel M, Vuorio E, Werge T, Stoltenberg C, Stefánsson K.

Nat Genet. 2019 Jun;51(6):924-930. doi: 10.1038/s41588-019-0391-1. No abstract available.

PMID:
30988515
8.

Capitalizing on Insights from Human Genetics to Identify Novel Therapeutic Targets for Coronary Artery Disease.

Young EP, Stitziel NO.

Annu Rev Med. 2019 Jan 27;70:19-32. doi: 10.1146/annurev-med-041717-085853. Epub 2018 Oct 24.

PMID:
30355262
9.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

10.

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation.

J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044. Review.

11.

Genetics of the extracellular matrix in aortic aneurysmal diseases.

Lin CJ, Lin CY, Stitziel NO.

Matrix Biol. 2018 Oct;71-72:128-143. doi: 10.1016/j.matbio.2018.04.005. Epub 2018 Apr 12. Review.

12.

Reply: Loss-of-Function Mutations to Estimate Pharmacological ANGPTL3 Inhibition.

Stitziel NO, Musunuru K, Kathiresan S.

J Am Coll Cardiol. 2017 Oct 17;70(16):2099-2100. doi: 10.1016/j.jacc.2017.07.794. No abstract available.

13.

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.

Emdin CA, Khera AV, Klarin D, Natarajan P, Zekavat SM, Nomura A, Haas M, Aragam K, Ardissino D, Wilson JG, Schunkert H, McPherson R, Watkins H, Elosua R, Bown MJ, Samani NJ, Baber U, Erdmann J, Gormley P, Palotie A, Stitziel NO, Gupta N, Danesh J, Saleheen D, Gabriel S, Kathiresan S.

Circulation. 2018 Jan 16;137(3):222-232. doi: 10.1161/CIRCULATIONAHA.117.028021. Epub 2017 Oct 5.

14.

Genetic association studies in cardiovascular diseases: Do we have enough power?

Auer PL, Stitziel NO.

Trends Cardiovasc Med. 2017 Aug;27(6):397-404. doi: 10.1016/j.tcm.2017.03.005. Epub 2017 Mar 24. Review.

15.

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

Stitziel NO, Khera AV, Wang X, Bierhals AJ, Vourakis AC, Sperry AE, Natarajan P, Klarin D, Emdin CA, Zekavat SM, Nomura A, Erdmann J, Schunkert H, Samani NJ, Kraus WE, Shah SH, Yu B, Boerwinkle E, Rader DJ, Gupta N, Frossard PM, Rasheed A, Danesh J, Lander ES, Gabriel S, Saleheen D, Musunuru K, Kathiresan S; PROMIS and Myocardial Infarction Genetics Consortium Investigators.

J Am Coll Cardiol. 2017 Apr 25;69(16):2054-2063. doi: 10.1016/j.jacc.2017.02.030. Epub 2017 Apr 3.

16.

Comments on Letter to the Editor entitled: "Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy".

Sommerville RB, Vincenti MG, Winborn K, Casey A, Stitziel NO, Connolly AM, Mann DL.

Trends Cardiovasc Med. 2017 Feb 7. pii: S1050-1738(17)30014-2. doi: 10.1016/j.tcm.2017.02.002. [Epub ahead of print] No abstract available.

PMID:
28291654
17.

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.

Khera AV, Won HH, Peloso GM, O'Dushlaine C, Liu D, Stitziel NO, Natarajan P, Nomura A, Emdin CA, Gupta N, Borecki IB, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartzel DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer C, Abecasis GR, Saleheen D, Dewey FE, Kathiresan S; Myocardial Infarction Genetics Consortium, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium.

JAMA. 2017 Mar 7;317(9):937-946. doi: 10.1001/jama.2017.0972.

18.

Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting.

Natarajan P, Young R, Stitziel NO, Padmanabhan S, Baber U, Mehran R, Sartori S, Fuster V, Reilly DF, Butterworth A, Rader DJ, Ford I, Sattar N, Kathiresan S.

Circulation. 2017 May 30;135(22):2091-2101. doi: 10.1161/CIRCULATIONAHA.116.024436. Epub 2017 Feb 21.

19.

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Webb TR, Erdmann J, Stirrups KE, Stitziel NO, Masca NG, Jansen H, Kanoni S, Nelson CP, Ferrario PG, König IR, Eicher JD, Johnson AD, Hamby SE, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björkegren JL, Weeke PE, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kruppa J, Mahajan A, Scott RA, Willenborg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer C, El-Mokhtari NE, Franke A, Heilmann S, Hengstenberg C, Hoffmann P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Virtamo J, Nikpay M, Olivieri O, Provost S, AlQarawi A, Robertson NR, Akinsansya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Müller-Nurasyid M, Strauch K, Varga TV, Waldenberger M; Wellcome Trust Case Control Consortium, Zeng L, Chowdhury R, Salomaa V, Ford I, Jukema JW, Amouyel P, Kontto J; MORGAM Investigators, Nordestgaard BG, Ferrières J, Saleheen D, Sattar N, Surendran P, Wagner A, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader DJ, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Samani NJ, Schunkert H, Deloukas P, Kathiresan S; Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators.

J Am Coll Cardiol. 2017 Feb 21;69(7):823-836. doi: 10.1016/j.jacc.2016.11.056.

20.

Variants in ANGPTL4 and the Risk of Coronary Artery Disease.

Stitziel NO; the Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators.

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

PMID:
28112900
21.

Human genetic insights into lipoproteins and risk of cardiometabolic disease.

Stitziel NO.

Curr Opin Lipidol. 2017 Apr;28(2):113-119. doi: 10.1097/MOL.0000000000000389. Review.

22.

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

Emdin CA, Khera AV, Natarajan P, Klarin D, Won HH, Peloso GM, Stitziel NO, Nomura A, Zekavat SM, Bick AG, Gupta N, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Willer C, Abecasis GR, Felix JF, Vasan RS, Lander E, Rader DJ, Danesh J, Ardissino D, Gabriel S, Saleheen D, Kathiresan S; CHARGE–Heart Failure Consortium; CARDIoGRAM Exome Consortium.

J Am Coll Cardiol. 2016 Dec 27;68(25):2761-2772. doi: 10.1016/j.jacc.2016.10.033.

23.

Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles.

Gregson JM, Freitag DF, Surendran P, Stitziel NO, Chowdhury R, Burgess S, Kaptoge S, Gao P, Staley JR, Willeit P, Nielsen SF, Caslake M, Trompet S, Polfus LM, Kuulasmaa K, Kontto J, Perola M, Blankenberg S, Veronesi G, Gianfagna F, Männistö S, Kimura A, Lin H, Reilly DF, Gorski M, Mijatovic V; CKDGen consortium, Munroe PB, Ehret GB; International Consortium for Blood Pressure, Thompson A, Uria-Nickelsen M, Malarstig A, Dehghan A; CHARGE inflammation working group, Vogt TF, Sasaoka T, Takeuchi F, Kato N, Yamada Y, Kee F, Müller-Nurasyid M, Ferrières J, Arveiler D, Amouyel P, Salomaa V, Boerwinkle E, Thompson SG, Ford I, Wouter Jukema J, Sattar N, Packard CJ, Shafi Majumder AA, Alam DS, Deloukas P, Schunkert H, Samani NJ, Kathiresan S; MICAD Exome consortium, Nordestgaard BG, Saleheen D, Howson JM, Di Angelantonio E, Butterworth AS, Danesh J; EPIC-CVD consortium and the CHD Exome+ consortium.

Eur J Prev Cardiol. 2017 Mar;24(5):492-504. doi: 10.1177/2047487316682186. Epub 2016 Dec 8. Review.

24.

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Natarajan P, Bis JC, Bielak LF, Cox AJ, Dörr M, Feitosa MF, Franceschini N, Guo X, Hwang SJ, Isaacs A, Jhun MA, Kavousi M, Li-Gao R, Lyytikäinen LP, Marioni RE, Schminke U, Stitziel NO, Tada H, van Setten J, Smith AV, Vojinovic D, Yanek LR, Yao J, Yerges-Armstrong LM, Amin N, Baber U, Borecki IB, Carr JJ, Chen YI, Cupples LA, de Jong PA, de Koning H, de Vos BD, Demirkan A, Fuster V, Franco OH, Goodarzi MO, Harris TB, Heckbert SR, Heiss G, Hoffmann U, Hofman A, Išgum I, Jukema JW, Kähönen M, Kardia SL, Kral BG, Launer LJ, Massaro J, Mehran R, Mitchell BD, Mosley TH Jr, de Mutsert R, Newman AB, Nguyen KD, North KE, O'Connell JR, Oudkerk M, Pankow JS, Peloso GM, Post W, Province MA, Raffield LM, Raitakari OT, Reilly DF, Rivadeneira F, Rosendaal F, Sartori S, Taylor KD, Teumer A, Trompet S, Turner ST, Uitterlinden AG, Vaidya D, van der Lugt A, Völker U, Wardlaw JM, Wassel CL, Weiss S, Wojczynski MK, Becker DM, Becker LC, Boerwinkle E, Bowden DW, Deary IJ, Dehghan A, Felix SB, Gudnason V, Lehtimäki T, Mathias R, Mook-Kanamori DO, Psaty BM, Rader DJ, Rotter JI, Wilson JG, van Duijn CM, Völzke H, Kathiresan S, Peyser PA, O'Donnell CJ; CHARGE Consortium.

Circ Cardiovasc Genet. 2016 Dec;9(6):511-520. doi: 10.1161/CIRCGENETICS.116.001572. Epub 2016 Nov 21.

25.

Leveraging human genetics to guide drug target discovery.

Stitziel NO, Kathiresan S.

Trends Cardiovasc Med. 2017 Jul;27(5):352-359. doi: 10.1016/j.tcm.2016.08.008. Epub 2016 Aug 26. Review.

26.

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Liu C, Kraja AT, Smith JA, Brody JA, Franceschini N, Bis JC, Rice K, Morrison AC, Lu Y, Weiss S, Guo X, Palmas W, Martin LW, Chen YD, Surendran P, Drenos F, Cook JP, Auer PL, Chu AY, Giri A, Zhao W, Jakobsdottir J, Lin LA, Stafford JM, Amin N, Mei H, Yao J, Voorman A; CHD Exome+ Consortium; ExomeBP Consortium; GoT2DGenes Consortium; T2D-GENES Consortium, Larson MG, Grove ML, Smith AV, Hwang SJ, Chen H, Huan T, Kosova G, Stitziel NO, Kathiresan S, Samani N, Schunkert H, Deloukas P; Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia, Li M, Fuchsberger C, Pattaro C, Gorski M; CKDGen Consortium, Kooperberg C, Papanicolaou GJ, Rossouw JE, Faul JD, Kardia SL, Bouchard C, Raffel LJ, Uitterlinden AG, Franco OH, Vasan RS, O'Donnell CJ, Taylor KD, Liu K, Bottinger EP, Gottesman O, Daw EW, Giulianini F, Ganesh S, Salfati E, Harris TB, Launer LJ, Dörr M, Felix SB, Rettig R, Völzke H, Kim E, Lee WJ, Lee IT, Sheu WH, Tsosie KS, Edwards DR, Liu Y, Correa A, Weir DR, Völker U, Ridker PM, Boerwinkle E, Gudnason V, Reiner AP, van Duijn CM, Borecki IB, Edwards TL, Chakravarti A, Rotter JI, Psaty BM, Loos RJ, Fornage M, Ehret GB, Newton-Cheh C, Levy D, Chasman DI.

Nat Genet. 2016 Oct;48(10):1162-70. doi: 10.1038/ng.3660. Epub 2016 Sep 12.

27.

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Sommerville RB, Vincenti MG, Winborn K, Casey A, Stitziel NO, Connolly AM, Mann DL.

Trends Cardiovasc Med. 2017 Jan;27(1):51-58. doi: 10.1016/j.tcm.2016.06.005. Epub 2016 Jun 14. Review.

PMID:
27452966
28.

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine, Mecham RP, Frank NY, Stitziel NO.

Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18.

29.

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.

Golbus JR, Stitziel NO, Zhao W, Xue C, Farrall M, McPherson R, Erdmann J, Deloukas P, Watkins H, Schunkert H, Samani NJ, Saleheen D, Kathiresan S, Reilly MP; CARDIoGRAMplusC4D, Myocardial Infarction Genetics (MIGen), Exome Sequencing Project and Early-Onset Myocardial Infarction (ESP EOMI), and the Pakistan Risk of Myocardial Infarction Study (PROMIS) Consortia*.

Circ Cardiovasc Genet. 2016 Jun;9(3):250-8. doi: 10.1161/CIRCGENETICS.115.001374. Epub 2016 Mar 24.

30.

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.

Zanoni P, Khetarpal SA, Larach DB, Hancock-Cerutti WF, Millar JS, Cuchel M, DerOhannessian S, Kontush A, Surendran P, Saleheen D, Trompet S, Jukema JW, De Craen A, Deloukas P, Sattar N, Ford I, Packard C, Majumder Aa, Alam DS, Di Angelantonio E, Abecasis G, Chowdhury R, Erdmann J, Nordestgaard BG, Nielsen SF, Tybjærg-Hansen A, Schmidt RF, Kuulasmaa K, Liu DJ, Perola M, Blankenberg S, Salomaa V, Männistö S, Amouyel P, Arveiler D, Ferrieres J, Müller-Nurasyid M, Ferrario M, Kee F, Willer CJ, Samani N, Schunkert H, Butterworth AS, Howson JM, Peloso GM, Stitziel NO, Danesh J, Kathiresan S, Rader DJ; CHD Exome+ Consortium; CARDIoGRAM Exome Consortium; Global Lipids Genetics Consortium.

Science. 2016 Mar 11;351(6278):1166-71. doi: 10.1126/science.aad3517.

31.

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H.

N Engl J Med. 2016 Mar 24;374(12):1134-44. doi: 10.1056/NEJMoa1507652. Epub 2016 Mar 2. Erratum in: N Engl J Med. 2016 May 12;374(19):1898. Erratum in: N Engl J Med. 2016 May 12;374(19):1898.

32.

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015.

33.

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.

Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield M, Devlin JJ, Nordio F, Hyde C, Cannon CP, Sacks F, Poulter N, Sever P, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS.

Lancet. 2015 Jun 6;385(9984):2264-2271. doi: 10.1016/S0140-6736(14)61730-X. Epub 2015 Mar 4.

34.

Exome sequencing in suspected monogenic dyslipidemias.

Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S.

Circ Cardiovasc Genet. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27.

35.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

36.

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S.

N Engl J Med. 2014 Nov 27;371(22):2072-82. doi: 10.1056/NEJMoa1405386. Epub 2014 Nov 12.

37.

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Ardissino D, Shah S, Willer C, Loos R, Melander O, Mcpherson R, Hovingh K, Reilly M, Watkins H, Girelli D, Fontanillas P, Chasman DI, Gabriel SB, Gibbs R, Nickerson DA, Kathiresan S, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP; Cohorts for Heart and Aging Research in Genomic Epidemiology; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Hum Mol Genet. 2015 Jan 15;24(2):559-71. doi: 10.1093/hmg/ddu450. Epub 2014 Sep 3.

38.

A clinical approach to inherited premature coronary artery disease.

Stitziel NO, MacRae CA.

Circ Cardiovasc Genet. 2014 Aug;7(4):558-64. doi: 10.1161/CIRCGENETICS.113.000152. No abstract available.

39.

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project.

PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul.

40.

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, Jun G, Hu Y, Kang HM, Xue C, Goel A, Farrall M, Duga S, Merlini PA, Asselta R, Girelli D, Olivieri O, Martinelli N, Yin W, Reilly D, Speliotes E, Fox CS, Hveem K, Holmen OL, Nikpay M, Farlow DN, Assimes TL, Franceschini N, Robinson J, North KE, Martin LW, DePristo M, Gupta N, Escher SA, Jansson JH, Van Zuydam N, Palmer CN, Wareham N, Koch W, Meitinger T, Peters A, Lieb W, Erbel R, Konig IR, Kruppa J, Degenhardt F, Gottesman O, Bottinger EP, O'Donnell CJ, Psaty BM, Ballantyne CM, Abecasis G, Ordovas JM, Melander O, Watkins H, Orho-Melander M, Ardissino D, Loos RJ, McPherson R, Willer CJ, Erdmann J, Hall AS, Samani NJ, Deloukas P, Schunkert H, Wilson JG, Kooperberg C, Rich SS, Tracy RP, Lin DY, Altshuler D, Gabriel S, Nickerson DA, Jarvik GP, Cupples LA, Reiner AP, Boerwinkle E, Kathiresan S.

N Engl J Med. 2014 Jul 3;371(1):22-31. doi: 10.1056/NEJMoa1307095. Epub 2014 Jun 18.

41.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

42.

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, Isaacs A, Jakobsdottir J, Feitosa MF, Davies G, Huffman JE, Manichaikul A, Davis B, Lohman K, Joon AY, Smith AV, Grove ML, Zanoni P, Redon V, Demissie S, Lawson K, Peters U, Carlson C, Jackson RD, Ryckman KK, Mackey RH, Robinson JG, Siscovick DS, Schreiner PJ, Mychaleckyj JC, Pankow JS, Hofman A, Uitterlinden AG, Harris TB, Taylor KD, Stafford JM, Reynolds LM, Marioni RE, Dehghan A, Franco OH, Patel AP, Lu Y, Hindy G, Gottesman O, Bottinger EP, Melander O, Orho-Melander M, Loos RJ, Duga S, Merlini PA, Farrall M, Goel A, Asselta R, Girelli D, Martinelli N, Shah SH, Kraus WE, Li M, Rader DJ, Reilly MP, McPherson R, Watkins H, Ardissino D; NHLBI GO Exome Sequencing Project, Zhang Q, Wang J, Tsai MY, Taylor HA, Correa A, Griswold ME, Lange LA, Starr JM, Rudan I, Eiriksdottir G, Launer LJ, Ordovas JM, Levy D, Chen YD, Reiner AP, Hayward C, Polasek O, Deary IJ, Borecki IB, Liu Y, Gudnason V, Wilson JG, van Duijn CM, Kooperberg C, Rich SS, Psaty BM, Rotter JI, O'Donnell CJ, Rice K, Boerwinkle E, Kathiresan S, Cupples LA.

Am J Hum Genet. 2014 Feb 6;94(2):223-32. doi: 10.1016/j.ajhg.2014.01.009.

43.

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Arterioscler Thromb Vasc Biol. 2013 Dec;33(12):2909-14. doi: 10.1161/ATVBAHA.113.302426. Epub 2013 Sep 26.

44.

Exome sequencing and the genetic basis of complex traits.

Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, Gupta N, Sklar P, Sullivan PF, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Lehner T, Shugart YY, Price AL, de Bakker PI, Purcell SM, Sunyaev SR.

Nat Genet. 2012 May 29;44(6):623-30. doi: 10.1038/ng.2303. No abstract available.

45.

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Stitziel NO, Kiezun A, Sunyaev S.

Genome Biol. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227. Review.

46.

Membrane-associated and secreted genes in breast cancer.

Stitziel NO, Mar BG, Liang J, Westbrook CA.

Cancer Res. 2004 Dec 1;64(23):8682-7.

47.

topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association.

Stitziel NO, Binkowski TA, Tseng YY, Kasif S, Liang J.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D520-2.

48.

Structural location of disease-associated single-nucleotide polymorphisms.

Stitziel NO, Tseng YY, Pervouchine D, Goddeau D, Kasif S, Liang J.

J Mol Biol. 2003 Apr 11;327(5):1021-30.

PMID:
12662927
49.

A general approach to single-nucleotide polymorphism discovery.

Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR.

Nat Genet. 1999 Dec;23(4):452-6.

PMID:
10581034

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