Search concepts
|
Selected Filters
|
- 1 - 50 out of 102 results
Search results
-
2025
Clinical Insights from Proteomics in Heart Failure
Lotfinaghsh, A., Imam, A., Pompian, A., Stitziel, N. O. & Javaheri, A., Dec 2025, In: Current Heart Failure Reports. 22, 1, 12.Research output: Contribution to journal › Review article › peer-review
-
Decoding the Therapeutic Target SVEP1: Harnessing Molecular Trait GWASs to Unravel Mechanisms of Human Disease
Elenbaas, J. S., Lee, P. C., Patel, V. & Stitziel, N. O., Jan 23 2025, In: Annual Review of Pharmacology and Toxicology. 65, 1, p. 131-148 18 p.Research output: Contribution to journal › Review article › peer-review
Open Access1 Scopus citations -
Effect of complete, lifelong ANGPTL3 deficiency on triglyceride-rich lipoprotein kinetics
Fappi, A., Patterson, B. W., Burks, K. H., Davidson, N. O., Vaisar, T., Kanter, J. E., Bornfeldt, K. E., Fisher, E. A., Goldberg, I. J., Stitziel, N. O. & Mittendorfer, B., Jun 17 2025, In: Cell Reports Medicine. 6, 6, 102152.Research output: Contribution to journal › Article › peer-review
-
Molecular Regulation and Therapeutic Targeting of VLDL Production in Cardiometabolic Disease
Burks, K. H., Stitziel, N. O. & Davidson, N. O., Jan 2025, In: CMGH. 19, 1, 101409.Research output: Contribution to journal › Review article › peer-review
Open Access1 Scopus citations -
Plasma SVEP1 Levels Predict Cardiovascular Events in Hypertrophic Cardiomyopathy Beyond Conventional Clinical Risk Models Including NT-proBNP
Osawa, I., Akita, K., Hasegawa, K., Fifer, M. A., Tower-Rader, A., Reilly, M. P., Maurer, M. S., Stitziel, N. O., Javaheri, A. & Shimada, Y. J., Feb 1 2025, In: Circulation: Heart Failure. 18, 2, p. e012343Research output: Contribution to journal › Article › peer-review
-
Reducing the Risk of Pancreatitis by Inhibiting APOC3
Stitziel, N. O., Jan 9 2025, In: New England Journal of Medicine. 392, 2, p. 197-199 3 p.Research output: Contribution to journal › Editorial
-
2024
A genomic mutational constraint map using variation in 76,156 human genomes
Genome Aggregation Database Consortium, Jan 4 2024, In: Nature. 625, 7993, p. 92-100 9 p.Research output: Contribution to journal › Article › peer-review
519 Scopus citations -
ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism
Burks, K. H., Xie, Y., Gildea, M., Jung, I. H., Mukherjee, S., Lee, P., Pudupakkam, U., Wagoner, R., Patel, V., Santana, K., Alisio, A., Goldberg, I. J., Finck, B. N., Fisher, E. A., Davidson, N. & Stitziel, N. O., Feb 2024, In: Journal of lipid research. 65, 2, 100500.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0)
Genome Aggregation Database Consortium, Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y. & Banks, E. & 181 others, , Feb 1 2024, In: Nature. 626, 7997, p. E1Research output: Contribution to journal › Comment/debate
9 Scopus citations -
Deciphering the impact of genomic variation on function
UM1HG011969, UM1HG011966, Single Cell, QTL/Statgen, Phenotypic Impact and Function, Neuro, Noncoding Variants, MPRA, iPSC, Impact on Diverse Populations, Immune, Imaging, Evolution, Enumerating Variants, Defining and Systematizing Function, CRISPR, Coding Variants, Cellular Programs and Networks, Cardiometabolic & Standards and Pipelines & 61 others, , Sep 5 2024, In: Nature. 633, 8028, p. 47-57 11 p.Research output: Contribution to journal › Article › peer-review
20 Scopus citations -
Identification of a leucine-mediated threshold effect governing macrophage mTOR signalling and cardiovascular risk
Zhang, X., Kapoor, D., Jeong, S. J., Fappi, A., Stitham, J., Shabrish, V., Sergin, I., Yousif, E., Rodriguez-Velez, A., Yeh, Y. S., Park, A., Yurdagul, A., Rom, O., Epelman, S., Schilling, J. D., Sardiello, M., Diwan, A., Cho, J., Stitziel, N. O. & Javaheri, A. & 3 others, , Feb 2024, In: Nature Metabolism. 6, 2, p. 359-377 19 p.Research output: Contribution to journal › Article › peer-review
24 Scopus citations -
Inferring compound heterozygosity from large-scale exome sequencing data
Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., Banks, E. & Barnard, J. & 212 others, , Jan 2024, In: Nature Genetics. 56, 1, p. 152-161 10 p.Research output: Contribution to journal › Article › peer-review
10 Scopus citations -
Instrumental variable and colocalization analyses identify endotrophin and HTRA1 as potential therapeutic targets for coronary artery disease
Lee, P. C., Jung, I. H., Thussu, S., Patel, V., Wagoner, R., Burks, K. H., Amrute, J., Elenbaas, J. S., Kang, C. J., Young, E. P., Scherer, P. E. & Stitziel, N. O., Jul 19 2024, In: iScience. 27, 7, 110104.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Integrin α9β1 deficiency does not impact the development of atherosclerosis in mice
Jung, I. H. & Stitziel, N. O., Feb 29 2024, In: Heliyon. 10, 4, e25760.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Rare variant contribution to the heritability of coronary artery disease
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2024, In: Nature communications. 15, 1, 8741.Research output: Contribution to journal › Article › peer-review
-
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies
Shyr, D., Dey, R., Li, X., Zhou, H., Boerwinkle, E., Buyske, S., Daly, M., Gibbs, R. A., Hall, I., Matise, T., Reeves, C., Stitziel, N. O., Zody, M., Neale, B. M. & Lin, X., Oct 3 2024, In: American journal of human genetics. 111, 10, p. 2129-2138 10 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Targeting immune–fibroblast cell communication in heart failure
Amrute, J. M., Luo, X., Penna, V., Yang, S., Yamawaki, T., Hayat, S., Bredemeyer, A., Jung, I. H., Kadyrov, F. F., Heo, G. S., Venkatesan, R., Shi, S. Y., Parvathaneni, A., Koenig, A. L., Kuppe, C., Baker, C., Luehmann, H., Jones, C., Kopecky, B. & Zeng, X. & 16 others, , Nov 14 2024, In: Nature. 635, 8038, p. 423-433 11 p.Research output: Contribution to journal › Article › peer-review
41 Scopus citations -
The Uses and Misuses of Mendelian Randomization in Clinical and Translational Science
Lee, P. C., Mann, D. L. & Stitziel, N. O., Jul 2024, In: JACC: Basic to Translational Science. 9, 7, p. 935-938 4 p.Research output: Contribution to journal › Editorial
Open Access2 Scopus citations -
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
Open Access15 Scopus citations -
ANGPTL3 Deficiency and Risk of Hepatic Steatosis
D'Erasmo, L., Di Martino, M., Neufeld, T., Fraum, T. J., Kang, C. J., Burks, K. H., Di Costanzo, A., Minicocci, I., Bini, S., Maranghi, M., Pigna, G., Labbadia, G., Zheng, J., Fierro, D., Montali, A., Ceci, F., Catalano, C., Davidson, N. O., Lucisano, G. & Nicolucci, A. & 2 others, , Nov 7 2023, In: Circulation. 148, 19, p. 1479-1489 11 p.Research output: Contribution to journal › Article › peer-review
Open Access15 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 Access25 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. P., Halabi, C. M., Alisio, A., Di Paola, J. & Stitziel, N. O., Dec 2023, In: Nature communications. 14, 1, 1511.Research output: Contribution to journal › Comment/debate
Open Access1 Scopus citations -
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
Open Access3 Scopus citations -
Genetic Testing in Evaluating Risk of Anthracycline Cardiomyopathy: Are We There Yet?
Wong-Siegel, J. R., Kim, Y., Stitziel, N. O. & Javaheri, A., Jun 2023, In: JACC: CardioOncology. 5, 3, p. 406-408 3 p.Research output: Contribution to journal › Editorial
Open Access3 Scopus citations -
Low LDL Cholesterol Is Not an Independent Risk Factor for Hepatic Steatosis
McHenry, S., Awad, A., Kozlitina, J., Stitziel, N. O. & Davidson, N. O., Aug 2023, In: Digestive diseases and sciences. 68, 8, p. 3451-3457 7 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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 Access21 Scopus citations -
The emerging Janus face of SVEP1 in development and disease
Elenbaas, J. S., Jung, I. H., Coler-Reilly, A., Lee, P. C., Alisio, A. & Stitziel, N. O., Nov 2023, In: Trends in Molecular Medicine. 29, 11, p. 939-950 12 p.Research output: Contribution to journal › Review article › peer-review
Open Access7 Scopus citations -
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
de Vries, P. S., Conomos, M. P., Singh, K., Nicholson, C. J., Jain, D., Hasbani, N. R., Jiang, W., Lee, S., Lino Cardenas, C. L., Lutz, S. M., Wong, D., Guo, X., Yao, J., Young, E. P., Tcheandjieu, C., Hilliard, A. T., Bis, J. C., Bielak, L. F., Brown, M. R. & Musharoff, S. & 97 others, , Dec 2023, In: Nature Cardiovascular Research. 2, 12, p. 1159-1172 14 p.Research output: Contribution to journal › Article › peer-review
7 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
Open Access9 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 Access100 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 Access30 Scopus citations -
Semi-automated assembly of high-quality diploid human reference genomes
Human Pangenome Reference Consortium, Cody, S., Fulton, R. S., Fulton, L. L., Li, D., Lindsay, T., Regier, A., Stitziel, N. O., Wang, T. & Hall, I., Nov 17 2022, In: Nature. 611, 7936, p. 519-531 13 p.Research output: Contribution to journal › Article › peer-review
Open Access95 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
Open Access7 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 Access19 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
1 Scopus citations -
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 Access12 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
Open Access43 Scopus citations -
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants
Iyer, K. R., Clarke, S. L., Guarischi-Sousa, R., Gjoni, K., Heath, A. S., Young, E. P., Stitziel, N. O., Laurie, C., Broome, J. G., Khan, A. T., Lewis, J. P., Xu, H., Montasser, M. E., Ashley, K. E., Hasbani, N. R., Boerwinkle, E., Morrison, A. C., Chami, N., Do, R. & Rocheleau, G. & 45 others, , Feb 18 2021, In: Journal of the American Heart Association. 14, 4, e036499.Research output: Contribution to journal › Article › peer-review
2 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 Access1 Scopus citations -
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
16 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
Open Access118 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
180 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 Access27 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
5 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 Access27 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
Open Access123 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 Access21 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
122 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 Access12 Scopus citations