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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 others , Mar 2023, In: JACC: Basic to Translational Science. 8, 3, p. 340-355 16 p.Research output: Contribution to journal › Article › peer-review
Open Access4 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
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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 Access1 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 Access19 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 Access1 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 Access17 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 others , 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 Access10 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. e3Research output: Contribution to journal › Letter › peer-review
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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 , Dec 2021, In: Human genomics. 15, 1, 34.Research output: Contribution to journal › Article › peer-review
Open Access5 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 Access16 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. E4Research output: Contribution to journal › Comment/debate
Open Access3 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 Access19 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 Access9 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 Access69 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 Access6 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 , 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 Access18 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 Access255 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
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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 Access21 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 , 2018, In: Circulation. 137, 3, p. 222-232 11 p.Research output: Contribution to journal › Article › peer-review
Open Access65 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 , 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 Access270 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 , 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 Access116 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 others , 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 others , 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 Access23 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 Access263 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 Access1 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 , 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 Access158 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 , 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 Access18 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 others , Oct 1 2016, In: Nature Genetics. 48, 10, p. 1162-1170 9 p.Research output: Contribution to journal › Article › peer-review
158 Scopus citations