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• 2023

  Angiopoietin-like 3: An important protein in regulating lipoprotein levels

  Burks, K. H., Basu, D., Goldberg, I. J. & Stitziel, N. O., May 2023, In: Best Practice and Research: Clinical Endocrinology and Metabolism. 37, 3, 101688.

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

• Apolipoprotein M Attenuates Anthracycline Cardiotoxicity and Lysosomal Injury

  Guo, Z., Valenzuela Ripoll, C., Picataggi, A., Rawnsley, D., Ozcan, M., Chirinos, J. A., Chendamarai, E., Girardi, A., Riehl, T., Evie, H., Diab, A., Kovacs, A., Hyrc, K., Ma, X., Asnani, A., Shewale, S. V., Scherrer-Crosbie, M., Cowart, L. A., Parks, J. S., Zhao, L., & 14 othersGordon, D., Ramirez-Valle, F., Margulies, K. B., Cappola, T. P., Desai, A. A., Pedersen, L. N., Bergom, C., Stitziel, N., Rettig, M., Dipersio, J., Hajny, S., Christoffersen, C., Diwan, A. & Javaheri, A., Mar 2023, In: JACC: Basic to Translational Science. 8, 3, p. 340-355 16 p.

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

  Open Access
  4 Scopus citations

• Author Correction: SVEP1 is an endogenous ligand for the orphan receptor PEAR1 (Nature Communications, (2023), 14, 1, (850), 10.1038/s41467-023-36486-0)

  Elenbaas, J. S., Pudupakkam, U., Ashworth, K. J., Kang, C. J., Patel, V., Santana, K., Jung, I-H., Lee, P. C., Burks, K. H., Amrute, J. M., Mecham, R., Halabi, C., Alisio, A., Di Paola, J. & Stitziel, N. O., Dec 2023, In: Nature communications. 14, 1, 1511.

  Research output: Contribution to journal › Comment/debate

  Open Access

• Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy

  Barrick, S. K., Garg, A., Greenberg, L., Zhang, S., Lin, C. Y., Stitziel, N. O. & Greenberg, M., Mar 2023, In: Journal of Molecular and Cellular Cardiology. 176, p. 58-67 10 p.

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

• SVEP1 is an endogenous ligand for the orphan receptor PEAR1

  Elenbaas, J. S., Pudupakkam, U., Ashworth, K. J., Kang, C. J., Patel, V., Santana, K., Jung, I. H., Lee, P. C., Burks, K. H., Amrute, J. M., Mecham, R. P., Halabi, C. M., Aliso, A., Di Paola, J. & Stitziel, N. O., Dec 2023, In: Nature communications. 14, 1, 850.

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

  Open Access
  1 Scopus citations
• 2022

  Distribution of 54 polygenic risk scores for common diseases in long lived individuals and their offspring

  Gunn, S., Wainberg, M., Song, Z., Andersen, S., Boudreau, R., Feitosa, M. F., Tan, Q., Montasser, M. E., O’Connell, J. R., Stitziel, N., Price, N., Perls, T., Schork, N. J. & Sebastiani, P., Apr 2022, In: GeroScience. 44, 2, p. 719-729 11 p.

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

• Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

  FinnGen, Dec 2022, In: Nature communications. 13, 1, 1644.

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

  Open Access
  19 Scopus citations

• Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk

  FinnGen, Oct 6 2022, In: American journal of human genetics. 109, 10, p. 1727-1741 15 p.

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

  Open Access
  1 Scopus citations

• Semi-automated assembly of high-quality diploid human reference genomes

  Human Pangenome Reference Consortium, Nov 17 2022, In: Nature. 611, 7936, p. 519-531 13 p.

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

  Open Access
  17 Scopus citations

• Vascular smooth muscle- and myeloid cell-derived integrin α9β1 does not directly mediate the development of atherosclerosis in mice

  Jung, I. H., Elenbaas, J. S., Burks, K. H., Amrute, J. M., Xiangyu, Z., Alisio, A. & Stitziel, N. O., Nov 2022, In: Atherosclerosis. 360, p. 15-20 6 p.

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

  Open Access
  10 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 othersLaakso, 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
  5 Scopus citations

• 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
  10 Scopus citations
• 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
  9 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
  41 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
  98 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

  Open Access
  16 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
  3 Scopus citations

• 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
  19 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
  77 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

  Open Access
  9 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
  69 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
  6 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 othersPalotie, 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
  13 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
  18 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

  Open Access
  255 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
  15 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
  21 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 othersStitziel, 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

  Open Access
  65 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 othersSteering 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
  7 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
  270 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 othersCarey, 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
  116 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
  19 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 othersBoehnke, 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
  332 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
  12 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 othersMännistö, 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

  Open Access
  23 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
  10 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
  21 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
  263 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 othersSchick, 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
  158 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 othersKruppa, 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
  343 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
  18 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
  120 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 othersZhao, 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
  158 Scopus citations