Find Research outputs

Search results

• 2021

  Association of structural variation with cardiometabolic traits in Finns

  Chen, L., Abel, H. J., Das, I., Larson, D. E., Ganel, L., Kanchi, K. L., Regier, A. A., Young, E. P., Kang, C. J., Scott, A. J., Chiang, C., Wang, X., Lu, S., Christ, R., Service, S. K., Chiang, C. W. K., Havulinna, A. S., Kuusisto, J., Boehnke, M., Laakso, M. & 6 others, Palotie, A., Ripatti, S., Freimer, N. B., Locke, A. E., Stitziel, N. O. & Hall, I. M., Apr 1 2021, In: American journal of human genetics. 108, 4, p. 583-596 14 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

• 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, R. B., Vincenti, M. G., Winborn, K., Casey, A., Stitziel, N. O., Connolly, A. M. & Mann, D. L., Jan 2021, In: Trends in Cardiovascular Medicine. 31, 1, p. e3

  Research output: Contribution to journal › Letter › peer-review

• Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

  Ganel, L., Chen, L., Christ, R., Vangipurapu, J., Young, E., Das, I., Kanchi, K., Larson, D., Regier, A., Abel, H., Kang, C. J., Scott, A., Havulinna, A., Chiang, C. W. K., Service, S., Freimer, N., Palotie, A., Ripatti, S., Kuusisto, J., Boehnke, M. & 4 others, Laakso, M., Locke, A., Stitziel, N. O. & Hall, I. M., Dec 2021, In: Human genomics. 15, 1, 34.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• SVEP1 is a human coronary artery disease locus that promotes atherosclerosis

  Jung, I. H., Elenbaas, J. S., Alisio, A., Santana, K., Young, E. P., Kang, C. J., Kachroo, P., Lavine, K. J., Razani, B., Mecham, R. P. & Stitziel, N. O., Mar 24 2021, In: Science translational medicine. 13, 586, eabe0357.

  Research output: Contribution to journal › Article › peer-review
• 2020

  Author Correction: High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy (Nature Metabolism, (2020), 2, 1, (110-125), 10.1038/s42255-019-0162-4)

  Zhang, X., Sergin, I., Evans, T. D., Jeong, S. J., Rodriguez-Velez, A., Kapoor, D., Chen, S., Song, E., Holloway, K. B., Crowley, J. R., Epelman, S., Weihl, C. C., Diwan, A., Fan, D., Mittendorfer, B., Stitziel, N. O., Schilling, J. D., Lodhi, I. J. & Razani, B., Sep 1 2020, In: Nature Metabolism. 2, 9, p. 991 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

• Emerging Targets for Cardiovascular Disease Prevention in Diabetes

  Stitziel, N. O., Kanter, J. E. & Bornfeldt, K. E., Aug 2020, In: Trends in Molecular Medicine. 26, 8, p. 744-757 14 p.

  Research output: Contribution to journal › Review article › peer-review
  3 Scopus citations

• High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

  Zhang, X., Sergin, I., Evans, T. D., Jeong, S. J., Rodriguez-Velez, A., Kapoor, D., Chen, S., Song, E., Holloway, K. B., Crowley, J. R., Epelman, S., Weihl, C. C., Diwan, A., Fan, D., Mittendorfer, B., Stitziel, N. O., Schilling, J. D., Lodhi, I. J. & Razani, B., Jan 1 2020, In: Nature Metabolism. 2, 1, p. 110-125 16 p.

  Research output: Contribution to journal › Article › peer-review
  17 Scopus citations

• Mapping and characterization of structural variation in 17,795 human genomes

  NHGRI Centers for Common Disease Genomics, Jul 2 2020, In: Nature. 583, 7814, p. 83-89 7 p.

  Research output: Contribution to journal › Article › peer-review
  27 Scopus citations

• Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

  Chun, S., Imakaev, M., Hui, D., Patsopoulos, N. A., Neale, B. M., Kathiresan, S., Stitziel, N. O. & Sunyaev, S. R., Jul 2 2020, In: American journal of human genetics. 107, 1, p. 46-59 14 p.

  Research output: Contribution to journal › Article › peer-review
  8 Scopus citations
• 2019

  Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power (Nature, (2019), 572, 7769, (323-328), 10.1038/s41586-019-1457-z)

  FinnGen Project, Nov 21 2019, In: Nature. 575, 7783, p. E4

  Research output: Contribution to journal › Comment/debate

  Open Access

• Capitalizing on insights from human genetics to identify novel therapeutic targets for coronary artery disease

  Young, E. P. & Stitziel, N. O., Jan 27 2019, In: Annual review of medicine. 70, p. 19-32 14 p.

  Research output: Contribution to journal › Review article › peer-review
  4 Scopus citations

• Coronary artery disease risk and Lipidomic profiles are similar in hyperlipidemias with family history and population-ascertained Hyperlipidemias

  Rämö, J. T., Ripatti, P., Tabassum, R., Söderlund, S., Matikainen, N., Gerl, M. J., Klose, C., Surma, M. A., Stitziel, N. O., Havulinna, A. S., Pirinen, M., Salomaa, V., Freimer, N. B., Jauhiainen, M., Palotie, A., Taskinen, M. R., Simons, K. & Ripatti, S., Jul 1 2019, In: Journal of the American Heart Association. 8, 13, e012415.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  9 Scopus citations

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

  FinnGen Project, Aug 15 2019, In: Nature. 572, 7769, p. 323-328 6 p.

  Research output: Contribution to journal › Article › peer-review
  40 Scopus citations

• Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated with Coronary Artery Disease

  Evans, T. D., Zhang, X., Clark, R. E., Alisio, A., Song, E., Zhang, H., Reilly, M. P., Stitziel, N. O. & Razani, B., Dec 1 2019, In: Arteriosclerosis, thrombosis, and vascular biology. 39, 12, p. 2480-2491 12 p.

  Research output: Contribution to journal › Article › peer-review
  4 Scopus citations

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

  FinnGen Project, Dec 1 2019, In: Nature communications. 10, 1, 4329.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  27 Scopus citations

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

  Lee, V. S., Halabi, C. M., Broekelmann, T. J., Trackman, P. C., Stitziel, N. O. & Mecham, R. P., Aug 8 2019, In: JCI Insight. 4, 15, :e127748.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

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

  Njølstad, P. R., Andreassen, O. A., Brunak, S., Børglum, A. D., Dillner, J., Esko, T., Franks, P. W., Freimer, N., Groop, L., Heimer, H., Hougaard, D. M., Hovig, E., Hveem, K., Jalanko, A., Kaprio, J., Knudsen, G. P., Melbye, M., Metspalu, A., Mortensen, P. B., Palmgren, J. & 11 others, Palotie, A., Reed, W., Stefánsson, H., Stitziel, N. O., Sullivan, P. F., Thorsteinsdóttir, U., Vaudel, M., Vuorio, E., Werge, T., Stoltenberg, C. & Stefánsson, K., Jun 1 2019, In: Nature Genetics. 51, 6, p. 924-930 7 p.

  Research output: Contribution to journal › Comment/debate
  9 Scopus citations
• 2018

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

  Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM), Dec 1 2018, In: npj Genomic Medicine. 3, 1, 21.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  16 Scopus citations

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

  Convened by the Familial Hypercholesterolemia Foundation, Aug 7 2018, In: Journal of the American College of Cardiology. 72, 6, p. 662-680 19 p.

  Research output: Contribution to journal › Review article › peer-review
  139 Scopus citations

• Differences in the commonly used genotype imputation algorithms and their imputation accuracy estimates

  Parn, K., Pirinen, M., Kals, M., Magi, R., Salomaa, V., Boehnke, M., Hall, I., Stitziel, N., Freimer, N., Daly, M., Palotie, A., Ripatti, S. & Palta, P., Dec 24 2018, Proceedings - IEEE 14th International Conference on eScience, e-Science 2018. Institute of Electrical and Electronics Engineers Inc., p. 293-294 2 p. 8588677. (Proceedings - IEEE 14th International Conference on eScience, e-Science 2018).

  Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

• Genetics of the extracellular matrix in aortic aneurysmal diseases

  Lin, C. J., Lin, C. Y. & Stitziel, N. O., Oct 2018, In: Matrix Biology. 71-72, p. 128-143 16 p.

  Research output: Contribution to journal › Review article › peer-review
  10 Scopus citations

• New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

  Elbitar, S., Susan-Resiga, D., Ghaleb, Y., El Khoury, P., Peloso, G., Stitziel, N., Rabès, J. P., Carreau, V., Hamelin, J., Ben-Djoudi-Ouadda, A., Bruckert, E., Boileau, C., Seidah, N. G., Varret, M. & Abifadel, M., Dec 1 2018, In: Scientific reports. 8, 1, 1943.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  12 Scopus citations

• Phenotypic consequences of a genetic predisposition to enhanced nitric oxide signaling

  Emdin, C. A., Khera, A. V., Klarin, D., Natarajan, P., Zekavat, S. M., Nomura, A., Haas, M., Aragam, K., Ardissino, D., Wilson, J. G., Schunkert, H., McPherson, R., Watkins, H., Elosua, R., Bown, M. J., Samani, N. J., Baber, U., Erdmann, J., Gormley, P., Palotie, A. & 6 others, Stitziel, N. O., Gupta, N., Danesh, J., Saleheen, D., Gabriel, S. & Kathiresan, S., 2018, In: Circulation. 137, 3, p. 222-232 11 p.

  Research output: Contribution to journal › Article › peer-review
  40 Scopus citations

• Rare loss of function variants in candidate genes and risk of colorectal cancer

  NHLBI GO Exome Sequencing Project, Pulmonary Arterial Hypertension (PAH), Severe Asthma Research Program (SARP), Women’s Health Initiative (WHI), Anthropometry Project Team, Blood Count/Hematology Project Team, Blood Pressure Project Team, Data Flow Working Group, Early MI Project Team, ELSI Working Group, Executive Committee, Family Study Project Team, Lipids Project Team, Lung Project Team, Personal Genomics Project Team, Phenotype and Harmonization Working Group, Population Genetics and Statistical Analysis Working Group, Publications and Presentations Working Group, Quantitative Analysis Ad Hoc Task Group, Sequencing and Genotyping Working Group & 15 others, Steering Committee, Stroke Project Team, Structural Variation Working Group, Subclinical/Quantitative Project Team, Acute Lung Injury (ALI), Atherosclerosis Risk in Communities (ARIC), Cardiovascular Health Study (CHS), Chronic Obstructive Pulmonary Disease (COPDGene), Coronary Artery Risk Development in Young Adults (CARDIA), Cystic Fibrosis (CF), Early Pseudomonas Infection Control (EPIC), Framingham Heart Study (FHS), Jackson Heart Study (JHS), Lung Health Study (LHS) & Multi-Ethnic Study of Atherosclerosis (MESA), Oct 1 2018, In: Human genetics. 137, 10, p. 795-806 12 p.

  Research output: Contribution to journal › Article › peer-review
  6 Scopus citations
• 2017

  ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

  PROMIS and Myocardial Infarction Genetics Consortium Investigators, Apr 25 2017, In: Journal of the American College of Cardiology. 69, 16, p. 2054-2063 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  181 Scopus citations

• Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease

  Khera, A. V., Won, H. H., Peloso, G. M., O'Dushlaine, C., Liu, D., Stitziel, N. O., Natarajan, P., Nomura, A., Emdin, C. A., Gupta, N., Borecki, I. B., Asselta, R., Duga, S., Merlini, P. A., Correa, A., Kessler, T., Wilson, J. G., Bown, M. J., Hall, A. S., Braund, P. S. & 24 others, Carey, D. J., Murray, M. F., Kirchner, H. L., Leader, J. B., Lavage, D. R., Manus, J. N., Hartzel, D. N., Samani, N. J., Schunkert, H., Marrugat, J., Elosua, R., McPherson, R., Farrall, M., Watkin, H., Lander, E. S., Rader, D. J., Danesh, J., Ardissino, D., Gabriel, S., Willer, C., Abecasis, G. R., Saleheen, D., Dewey, F. E. & Kathiresan, S., Mar 7 2017, In: JAMA - Journal of the American Medical Association. 317, 9, p. 937-946 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  88 Scopus citations

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

  Sommerville, R. B., Vincenti, M. G., Winborn, K., Casey, A., Stitziel, N. O., Connolly, A. M. & Mann, D. L., Jan 1 2017, In: Trends in Cardiovascular Medicine. 27, 1, p. 51-58 8 p.

  Research output: Contribution to journal › Review article › peer-review
  14 Scopus citations

• Exome-wide association study of plasma lipids in >300,000 individuals

  Liu, D. J., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X., Mahajan, A., Saleheen, D., Emdin, C., Alam, D., Alves, A. C., Amouyel, P., Angelantonio, E. DI., Arveiler, D., Assimes, T. L., Auer, P. L., Baber, U., Ballantyne, C. M., Bang, L. E., Benn, M., Bis, J. C. & 207 others, Boehnke, M., Boerwinkle, E., Bork-Jensen, J., Bottinger, E. P., Brandslund, I., Brown, M., Busonero, F., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. E., Chen, Y. D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Connell, J. M., Cucca, F., Cupples, L. A., Damrauer, S. M., Davies, G., Deary, I. J., Dedoussis, G., Denny, J. C., Dominiczak, A., Dubé, M. P., Ebeling, T., Eiriksdottir, G., Esko, T., Farmaki, A. E., Feitosa, M. F., Ferrario, M., Ferrieres, J., Ford, I., Fornage, M., Franks, P. W., Frayling, T. M., Frikke-Schmidt, R., Fritsche, L. G., Frossard, P., Fuster, V., Ganesh, S. K., Gao, W., Garcia, M. E., Gieger, C., Giulianini, F., Goodarzi, M. O., Grallert, H., Grarup, N., Groop, L., Grove, M. L., Gudnason, V., Hansen, T., Harris, T. B., Hayward, C., Hirschhorn, J. N., Holmen, O. L., Huffman, J., Huo, Y., Hveem, K., Jabeen, S., Jackson, A. U., Jakobsdottir, J., Jarvelin, M. R., Jensen, G. B., Jørgensen, M. E., Jukema, J. W., Justesen, J. M., Kamstrup, P. R., Kanoni, S., Karpe, F., Kee, F., Khera, A. V., Klarin, D., Koistinen, H. A., Kooner, J. S., Kooperberg, C., Kuulasmaa, K., Kuusisto, J., Laakso, M., Lakka, T., Langenberg, C., Langsted, A., Launer, L. J., Lauritzen, T., MLiewald, D. C., Lin, L. A., Linneberg, A., Loos, R. J. F., Lu, Y., Lu, X., Mägi, R., Malarstig, A., Manichaikul, A., Manning, A. K., Mäntyselkä, P., Marouli, E., Masca, N. G. D., Maschio, A., Meigs, J. B., Melander, O., Metspalu, A., Morris, A. P., Morrison, A. C., Mulas, A., Müller-Nurasyid, M., Munroe, P. B., Neville, M. J., Nielsen, S. F., Nielsen, J. B., Nordestgaard, B. G., Ordovas, J. M., Mehran, R., O'Donnell, C. J., Orho-Melander, M., Molony, C. M., Muntendam, P., Padmanabhan, S., Palmer, C. N. A., Pasko, D., Patel, A. P., Pedersen, O., Perola, M., Peters, A., Pisinger, C., Pistis, G., Polasek, O., Poulter, N., Psaty, B. M., Rader, D. J., Rasheed, A., Rauramaa, R., Reilly, D. F., Reiner, A. P., Renström, F., Rich, S. S., Ridker, P. M., Rioux, J. D., Robertson, N. R., Roden, D. M., Rotter, J. I., Rudan, I., Salomaa, V., Samani, N. J., Sanna, S., Sattar, N., Schmidt, E. M., Scott, R. A., Sever, P., Sevilla, R. S., Shaffer, C. M., Sim, X., Sivapalaratnam, S., Small, K. S., Smith, A. V., Smith, B. H., Somayajula, S., Southam, L., Spector, T. D., Speliotes, E. K., Starr, J. M., Stirrups, K. E., Stitziel, N., Strauch, K., Stringham, H. M., Surendran, P., Tada, H., Tall, A. R., Tang, H., Tardif, J. C., Taylor, K. D., Trompet, S., Tsao, P. S., Tuomilehto, J., Tybjaerg-Hansen, A., Zuydam, N. R. V., Varbo, A., Varga, T. V., Virtamo, J., Waldenberger, M., Wang, N., Wareham, N. J., Warren, H. R., Weeke, P. E., Weinstock, J., Wessel, J., Wilson, J. G., Wilson, P. W. F., Xu, M., Yaghootkar, H., Young, R., Zeggini, E., Zhang, H., Zheng, N. S., Zhang, W., Zhang, Y., Zhou, W., Zhou, Y., Zoledziewska, M., Howson, J. M. M., Danesh, J., McCarthy, M. I., Cowan, C. A., Abecasis, G., Deloukas, P., Musunuru, K., Willer, C. J. & Kathiresan, S., Dec 1 2017, In: Nature Genetics. 49, 12, p. 1758-1766 9 p.

  Research output: Contribution to journal › Article › peer-review
  233 Scopus citations

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

  Auer, P. L. & Stitziel, N. O., Aug 2017, In: Trends in Cardiovascular Medicine. 27, 6, p. 397-404 8 p.

  Research output: Contribution to journal › Review article › peer-review
  10 Scopus citations

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

  Gregson, J. M., Freitag, D. F., Surendran, P., Stitziel, N. O., Chowdhury, R., Burgess, S., Kaptoge, S., Gao, P., Staley, J. R., Willeit, P., Nielsen, S. F., Caslake, M., Trompet, S., Polfus, L. M., Kuulasmaa, K., Kontto, J., Perola, M., Blankenberg, S., Veronesi, G., Gianfagna, F. & 41 others, Männistö, S., Kimura, A., Lin, H., Reilly, D. F., Gorski, M., Mijatovic, V., Munroe, P. B., Ehret, G. B., Thompson, A., Uria-Nickelsen, M., Malarstig, A., Dehghan, A., Vogt, T. F., Sasaoka, T., Takeuchi, F., Kato, N., Yamada, Y., Kee, F., Müller-Nurasyid, M., Ferrières, J., Arveiler, D., Amouyel, P., Salomaa, V., Boerwinkle, E., Thompson, S. G., Ford, I., Wouter Jukema, J., Sattar, N., Packard, C. J., Shafi Majumder, A. A., Alam, D. S., Deloukas, P., Schunkert, H., Samani, N. J., Kathiresan, S., Nordestgaard, B. G., Saleheen, D., Howson, J. M. M., Di Angelantonio, E., Butterworth, A. S. & Danesh, J., Mar 1 2017, In: European Journal of Preventive Cardiology. 24, 5, p. 492-504 13 p.

  Research output: Contribution to journal › Article › peer-review
  19 Scopus citations

• Human genetic insights into lipoproteins and risk of cardiometabolic disease

  Stitziel, N. O., Apr 1 2017, In: Current opinion in lipidology. 28, 2, p. 113-119 7 p.

  Research output: Contribution to journal › Review article › peer-review
  8 Scopus citations

• Leveraging human genetics to guide drug target discovery

  Stitziel, N. O. & Kathiresan, S., Jul 2017, In: Trends in Cardiovascular Medicine. 27, 5, p. 352-359 8 p.

  Research output: Contribution to journal › Review article › peer-review
  18 Scopus citations

• 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, N. O., Padmanabhan, S., Baber, U., Mehran, R., Sartori, S., Fuster, V., Reilly, D. F., Butterworth, A., Rader, D. J., Ford, I., Sattar, N. & Kathiresan, S., May 30 2017, In: Circulation. 135, 22, p. 2091-2101 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  186 Scopus citations

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

  Stitziel, N. O., Musunuru, K. & Kathiresan, S., Oct 17 2017, In: Journal of the American College of Cardiology. 70, 16, p. 2099-2100 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  1 Scopus citations

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

  Webb, T. R., Erdmann, J., Stirrups, K. E., Stitziel, N. O., Masca, N. G. D., Jansen, H., Kanoni, S., Nelson, C. P., Ferrario, P. G., König, I. R., Eicher, J. D., Johnson, A. D., Hamby, S. E., Betsholtz, C., Ruusalepp, A., Franzén, O., Schadt, E. E., Björkegren, J. L. M., Weeke, P. E., Auer, P. L. & 114 others, Schick, U. M., Lu, Y., Zhang, H., Dube, M. P., Goel, A., Farrall, M., Peloso, G. M., Won, H. H., Do, R., van Iperen, E., Kruppa, J., Mahajan, A., Scott, R. A., Willenborg, C., Braund, P. S., van Capelleveen, J. C., Doney, A. S. F., Donnelly, L. A., Asselta, R., Merlini, P. A., Duga, S., Marziliano, N., Denny, J. C., Shaffer, C., El-Mokhtari, N. E., Franke, A., Heilmann, S., Hengstenberg, C., Hoffmann, P., Holmen, O. L., Hveem, K., Jansson, J. H., Jöckel, K. H., Kessler, T., Kriebel, J., Laugwitz, K. L., Marouli, E., Martinelli, N., McCarthy, M. I., Van Zuydam, N. R., Meisinger, C., Esko, T., Mihailov, E., Escher, S. A., Alver, M., Moebus, S., Morris, A. D., Virtamo, J., Nikpay, M., Olivieri, O., Provost, S., AlQarawi, A., Robertson, N. R., Akinsansya, K. O., Reilly, D. F., Vogt, T. F., Yin, W., Asselbergs, F. W., Kooperberg, C., Jackson, R. D., Stahl, E., Müller-Nurasyid, M., Strauch, K., Varga, T. V., Waldenberger, M., Zeng, L., Chowdhury, R., Salomaa, V., Ford, I., Jukema, J. W., Amouyel, P., Kontto, J., Nordestgaard, B. G., Ferrières, J., Saleheen, D., Sattar, N., Surendran, P., Wagner, A., Young, R., Howson, J. M. M., Butterworth, A. S., Danesh, J., Ardissino, D., Bottinger, E. P., Erbel, R., Franks, P. W., Girelli, D., Hall, A. S., Hovingh, G. K., Kastrati, A., Lieb, W., Meitinger, T., Kraus, W. E., Shah, S. H., McPherson, R., Orho-Melander, M., Melander, O., Metspalu, A., Palmer, C. N. A., Peters, A., Rader, D. J., Reilly, M. P., Loos, R. J. F., Reiner, A. P., Roden, D. M., Tardif, J. C., Thompson, J. R., Wareham, N. J., Watkins, H., Willer, C. J., Samani, N. J., Schunkert, H., Deloukas, P. & Kathiresan, S., Feb 21 2017, In: Journal of the American College of Cardiology. 69, 7, p. 823-836 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  120 Scopus citations
• 2016

  Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease

  Stitziel, N. O., Stirrups, K. E., Masca, N. G. D., Erdmann, J., Ferrario, P. G., König, I. R., Weeke, P. E., Webb, T. R., Auer, P. L., Schick, U. M., Lu, Y., Zhang, H., Dube, M. P., Goel, A., Farrall, M., Peloso, G. M., Won, H. H., Do, R., Van Iperen, E., Kanoni, S. & 109 others, Kruppa, J., Mahajan, A., Scott, R. A., Willenborg, C., Braund, P. S., Van Capelleveen, J. C., Doney, A. S. F., Donnelly, L. A., Asselta, R., Merlini, P. A., Duga, S., Marziliano, N., Denny, J. C., Shaffer, C. M., El-Mokhtari, N. E., Franke, A., Gottesman, O., Heilmann, S., Hengstenberg, C., Hoffmann, P., Holmen, O. L., Hveem, K., Jansson, J. H., Jöckel, K. H., Kessler, T., Kriebel, J., Laugwitz, K. L., Marouli, E., Martinelli, N., McCarthy, M. I., Van Zuydam, N. R., Meisinger, C., Esko, T., Mihailov, E., Escher, S. A., Alver, M., Moebus, S., Morris, A. D., Müller-Nurasyid, M., Nikpay, M., Olivieri, O., Perreault, L. P. L., AlQarawi, A., Robertson, N. R., Akinsanya, K. O., Reilly, D. F., Vogt, T. F., Yin, W., Asselbergs, F. W., Kooperberg, C., Jackson, R. D., Stahl, E., Strauch, K., Varga, T. V., Waldenberger, M., Zeng, L., Kraja, A. T., Liu, C., Ehret, G. B., Newton-Cheh, C., Chasman, D. I., Chowdhury, R., Ferrario, M., Ford, I., Jukema, J. W., Kee, F., Kuulasmaa, K., Nordestgaard, B. G., Perola, M., Saleheen, D., Sattar, N., Surendran, P., Tregouet, D., Young, R., Howson, J. M. M., Butterworth, A. S., Danesh, J., Ardissino, D., Bottinger, E. P., Erbel, R., Franks, P. W., Girelli, D., Hall, A. S., Hovingh, G. K., Kastrati, A., Lieb, W., Meitinger, T., Kraus, W. E., Shah, S. H., McPherson, R., Orho-Melander, M., Melander, O., Metspalu, A., Palmer, C. N. A., Peters, A., Rader, D. J., Reilly, M. P., Loos, R. J. F., Reiner, A. P., Roden, D. M., Tardif, J. C., Thompson, J. R., Wareham, N. J., Watkins, H., Willer, C. J., Kathiresan, S., Deloukas, P., Samani, N. J. & Schunkert, H., Mar 24 2016, In: New England Journal of Medicine. 374, 12, p. 1134-1144 11 p.

  Research output: Contribution to journal › Article › peer-review
  280 Scopus citations

• Common and rare genetic variation in CCR2, CCR5, or CX3CR1 and risk of atherosclerotic coronary heart disease and glucometabolic traits

  Golbus, J. R., Stitziel, N. O., Zhao, W., Xue, C., Farrall, M., Mcpherson, R., Erdmann, J., Deloukas, P., Watkins, H., Schunkert, H., Samani, N. J., Saleheen, D., Kathiresan, S. & Reilly, M. P., Jun 1 2016, In: Circulation: Cardiovascular Genetics. 9, 3, p. 250-258 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  14 Scopus citations

• Dr. Stitziel replies

  for the Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Dec 8 2016, In: New England Journal of Medicine. 375, 23, p. 2306 1 p.

  Research output: Contribution to journal › Letter › peer-review
  8 Scopus citations

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

  Leea, V. S., Halabi, C. M., Hoffman, E. P., Carmichael, N., Leshchiner, I., Lian, C. G., Bierhals, A. J., Vuzman, D., Medicine, B. G., Mecham, R. P., Frank, N. Y. & Stitziel, N. O., Aug 2 2016, In: Proceedings of the National Academy of Sciences of the United States of America. 113, 31, p. 8759-8764 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  81 Scopus citations

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

  Liu, C., Kraja, A. T., Smith, J. A., Brody, J. A., Franceschini, N., Bis, J. C., Rice, K., Morrison, A. C., Lu, Y., Weiss, S., Guo, X., Palmas, W., Martin, L. W., Chen, Y. D. I., Surendran, P., Drenos, F., Cook, J. P., Auer, P. L., Chu, A. Y., Giri, A. & 75 others, Zhao, W., Jakobsdottir, J., Lin, L. A., Stafford, J. M., Amin, N., Mei, H., Yao, J., Voorman, A., Larson, M. G., Grove, M. L., Smith, A. V., Hwang, S. J., Chen, H., Huan, T., Kosova, G., Stitziel, N. O., Kathiresan, S., Samani, N., Schunkert, H., Deloukas, P., Li, M., Fuchsberger, C., Pattaro, C., Gorski, M., Kooperberg, C., Papanicolaou, G. J., Rossouw, J. E., Faul, J. D., Kardia, S. L. R., Bouchard, C., Raffel, L. J., Uitterlinden, A. G., Franco, O. H., Vasan, R. S., O'Donnell, C. J., Taylor, K. D., Liu, K., Bottinger, E. P., Gottesman, O., Daw, E. W., Giulianini, F., Ganesh, S., Salfati, E., Harris, T. B., Launer, L. J., Dörr, M., Felix, S. B., Rettig, R., Völzke, H., Kim, E., Lee, W. J., Lee, I. T., Sheu, W. H. H., Tsosie, K. S., Edwards, D. R. V., Liu, Y., Correa, A., Weir, D. R., Völker, U., Ridker, P. M., Boerwinkle, E., Gudnason, V., Reiner, A. P., Van Duijn, C. M., Borecki, I. B., Edwards, T. L., Chakravarti, A., Rotter, J. I., Psaty, B. M., Loos, R. J. F., Fornage, M., Ehret, G. B., Newton-Cheh, C., Levy, D. & Chasman, D. I., Oct 1 2016, In: Nature Genetics. 48, 10, p. 1162-1170 9 p.

  Research output: Contribution to journal › Article › peer-review
  130 Scopus citations

• Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

  Natarajan, P., Bis, J. C., Bielak, L. F., Cox, A. J., Dörr, M., Feitosa, M. F., Franceschini, N., Guo, X., Hwang, S. J., Isaacs, A., Jhun, M. A., Kavousi, M., Li-Gao, R., Lyytikäinen, L. P., Marioni, R. E., Schminke, U., Stitziel, N. O., Tada, H., Van Setten, J., Smith, A. V. & 80 others, Vojinovic, D., Yanek, L. R., Yao, J., Yerges-Armstrong, L. M., Amin, N., Baber, U., Borecki, I. B., Carr, J. J., Chen, Y. D. I., Cupples, L. A., De Jong, P. A., De Koning, H., De Vos, B. D., Demirkan, A., Fuster, V., Franco, O. H., Goodarzi, M. O., Harris, T. B., Heckbert, S. R., Heiss, G., Hoffmann, U., Hofman, A., Išgum, I., Jukema, J. W., Kähönen, M., Kardia, S. L. R., Kral, B. G., Launer, L. J., Massaro, J., Mehran, R., Mitchell, B. D., Mosley, T. H., De Mutsert, R., Newman, A. B., Nguyen, K. D., North, K. E., O'Connell, J. R., Oudkerk, M., Pankow, J. S., Peloso, G. M., Post, W., Province, M. A., Raffield, L. M., Raitakari, O. T., Reilly, D. F., Rivadeneira, F., Rosendaal, F., Sartori, S., Taylor, K. D., Teumer, A., Trompet, S., Turner, S. T., Uitterlinden, A. G., Vaidya, D., Van Der Lugt, A., Völker, U., Wardlaw, J. M., Wassel, C. L., Weiss, S., Wojczynski, M. K., Becker, D. M., Becker, L. C., Boerwinkle, E., Bowden, D. W., Deary, I. J., Dehghan, A., Felix, S. B., Gudnason, V., Lehtimäki, T., Mathias, R., Mook-Kanamori, D. O., Psaty, B. M., Rader, D. J., Rotter, J. I., Wilson, J. G., Van Duijn, C. M., Völzke, H., Kathiresan, S., Peyser, P. A. & O'Donnell, C. J., Dec 1 2016, In: Circulation: Cardiovascular Genetics. 9, 6, p. 511-520 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  26 Scopus citations

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

  CHARGE–Heart Failure Consortium & CARDIoGRAM Exome Consortium, Dec 27 2016, In: Journal of the American College of Cardiology. 68, 25, p. 2761-2772 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  99 Scopus citations

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

  Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Wouter Jukema, J., De Craen, A., Deloukas, P., Sattar, N., Ford, I., Packard, C., Majumder, A. A. S., Alam, D. S., Di Angelantonio, E. & 29 others, Abecasis, G., Chowdhury, R., Erdmann, J., Nordestgaard, B. G., Nielsen, S. F., Tybjærg-Hansen, A., Ruth Frikke Schmidt, F. S., Kuulasmaa, K., Liu, D. J., Perola, M., Blankenberg, S., Salomaa, V., Männistö, S., Amouyel, P., Arveiler, D., Ferrieres, J., Möller-Nurasyid, M., Ferrario, M., Kee, F., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Howson, J. M. M., Peloso, G. M., Stitziel, N. O., Danesh, J., Kathiresan, S. & Rader, D. J., Mar 11 2016, In: Science. 351, 6278, p. 1166-1171 6 p.

  Research output: Contribution to journal › Article › peer-review
  300 Scopus citations
• 2015

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

  on behalf of the Cohorts for Heart and Aging Research in Genomic Epidemiology and the National Heart, Lung, and Blood Institute GO Exome Sequencing Project, Jan 15 2015, In: Human molecular genetics. 24, 2, p. 559-571 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  27 Scopus citations

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

  Do, R., Stitziel, N. O., Won, H. H., Jørgensen, A. B., Duga, S., Merlini, P. A., Kiezun, A., Farrall, M., Goel, A., Zuk, O., Guella, I., Asselta, R., Lange, L. A., Peloso, G. M., Auer, P. L., Girelli, D., Martinelli, N., Farlow, D. N., DePristo, M. A., Roberts, R. & 73 others, Stewart, A. F. R., Saleheen, D., Danesh, J., Epstein, S. E., Sivapalaratnam, S., Hovingh, G. K., Kastelein, J. J., Samani, N. J., Schunkert, H., Erdmann, J., Shah, S. H., Kraus, W. E., Davies, R., Nikpay, M., Johansen, C. T., Wang, J., Hegele, R. A., Hechter, E., Marz, W., Kleber, M. E., Huang, J., Johnson, A. D., Li, M., Burke, G. L., Gross, M., Liu, Y., Assimes, T. L., Heiss, G., Lange, E. M., Folsom, A. R., Taylor, H. A., Olivieri, O., Hamsten, A., Clarke, R., Reilly, D. F., Yin, W., Rivas, M. A., Donnelly, P., Rossouw, J. E., Psaty, B. M., Herrington, D. M., Wilson, J. G., Rich, S. S., Bamshad, M. J., Tracy, R. P., Cupples, L. A., Rader, D. J., Reilly, M. P., Spertus, J. A., Cresci, S., Hartiala, J., Tang, W. H. W., Hazen, S. L., Allayee, H., Reiner, A. P., Carlson, C. S., Kooperberg, C., Jackson, R. D., Boerwinkle, E., Lander, E. S., Schwartz, S. M., Siscovick, D. S., McPherson, R., Tybjaerg-Hansen, A., Abecasis, G. R., Watkins, H., Nickerson, D. A., Ardissino, D., Sunyaev, S. R., O'Donnell, C. J., Altshuler, D., Gabriel, S. & Kathiresan, S., Feb 5 2015, In: Nature. 518, 7537, p. 102-106 5 p.

  Research output: Contribution to journal › Article › peer-review
  409 Scopus citations

• Exome Sequencing in Suspected Monogenic Dyslipidemias

  Stitziel, N. O., Peloso, G. M., Abifadel, M., Cefalu, A. B., Fouchier, S., Motazacker, M. M., Tada, H., Larach, D. B., Awan, Z., Haller, J. F., Pullinger, C. R., Varret, M., Rabès, J. P., Noto, D., Tarugi, P., Kawashiri, M. A., Nohara, A., Yamagishi, M., Risman, M., Deo, R. & 20 others, Ruel, I., Shendure, J., Nickerson, D. A., Wilson, J. G., Rich, S. S., Gupta, N., Farlow, D. N., Neale, B. M., Daly, M. J., Kane, J. P., Freeman, M. W., Genest, J., Rader, D. J., Mabuchi, H., Kastelein, J. J. P., Hovingh, G. K., Averna, M. R., Gabriel, S., Boileau, C. & Kathiresan, S., Apr 4 2015, In: Circulation: Cardiovascular Genetics. 8, 2, p. 343-350 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  30 Scopus citations

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

  Mega, J. L., Stitziel, N. O., Smith, J. G., Chasman, D. I., Caulfield, M. J., Devlin, J. J., Nordio, F., Hyde, C. L., Cannon, C. P., Sacks, F. M., Poulter, N. R., Sever, P. S., Ridker, P. M., Braunwald, E., Melander, O., Kathiresan, S. & Sabatine, M. S., Jun 6 2015, In: The Lancet. 385, 9984, p. 2264-2271 8 p.

  Research output: Contribution to journal › Article › peer-review
  331 Scopus citations

• Identification of medically actionable secondary findings in the 1000 genomes

  Olfson, E., Cottrell, C. E., Davidson, N. O., Gurnett, C. A., Heusel, J. W., Stitziel, N. O., Chen, L. S., Hartz, S., Nagarajan, R., Saccone, N. L. & Bierut, L. J., Sep 2 2015, In: PloS one. 10, 9, e0135193.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  54 Scopus citations

• Inherited chst11/mir3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

  Chopra, S. S., Leshchiner, I., Duzkale, H., McLaughlin, H., Giovanni, M., Zhang, C., Stitziel, N., Fingeroth, J., Joyce, R. M., Lebo, M., Rehm, H., Vuzman, D., Maas, R., Sunyaev, S. R., Murray, M. & Cassa, C. A., Sep 2015, In: Molecular Genetics and Genomic Medicine. 3, 5, p. 413-423 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  9 Scopus citations
• 2014

  A clinical approach to inherited premature coronary artery disease

  Stitziel, N. O. & MacRae, C. A., Aug 1 2014, In: Circulation: Cardiovascular Genetics. 7, 4, p. 558-564 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Scopus citations