Find Research outputs

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 Access
  1 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 Access
  1 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. e012343

  Research 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 Access
  10 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, Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Abreu, M., Aguilar Salinas, C. A., Ahmad, T., Albert, C. M., Ardissino, D., Armean, I. M., Atkinson, E. G., Atzmon, G., Barnard, J., Baxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brand, H., Brant, S., Brookings, T., Bryant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D. I., Chisholm, R., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Connolly, K. M., Correa, A., Cummings, B. B., Dabelea, D., Danesh, J., Darbar, D., Darnowsky, P., Denny, J., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Fatkin, D., Florez, J., Franke, A., Fu, J., Färkkilä, M., Garimella, K., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Haessly, A., Haiman, C., Hall, I., Hanis, C. L., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E. E., Kim, B. J., Kim, Y. J., King, D., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Loos, R. J. F., Lu, W., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J. L., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Naheed, A., Nazarian, S., Nilsson, P. M., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roden, D. M., Rotter, J. I., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Samocha, K. E., Sanchis-Juan, A., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E. G., Shah, S. H., Shand, M., Sharpe, T., Shoemaker, M. B., Shyong, T., Silverman, E. K., Singer-Berk, M., Sklar, P., Smith, J. T., Smith, J. G. & Stitziel, N. O., Feb 1 2024, In: Nature. 626, 7997, p. E1

  Research 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, Networks, Mapping, Project Design, Computational Analysis, Modeling, and Prediction, Characterization, Catalog, Code of Conduct Committee (alphabetical by last name), Steering Committee Co-Chairs (alphabetical by last name), IGVF Consortium, NHGRI Program Management (alphabetical by last name), IGVF Affiliate Member Projects (contact PIs, other members (alphabetical by last name)), Data and Administrative Coordinating Center Awards (contact PI, MPIs (alphabetical by last name), other members (alphabetical by last name)), Network Projects (contact PI, MPIs (alphabetical by last name), other members (alphabetical by last name)), Predictive Modeling Awards (contact PI, MPIs (alphabetical by last name), other members (alphabetical by last name)), Mapping Awards (contact PI, MPIs (alphabetical by last name), other members (alphabetical by last name)), Characterization Awards (contact PI, MPIs (alphabetical by last name), other members (alphabetical by last name)), Working Group and Focus Group Co-Chairs (alphabetical by last name), Writing group (ordered by contribution), Yi lab, Xu lab, Seruggia lab, Sanjana lab, Reilly lab, Ray lab, Pollard lab, Pennacchio and Visel lab, Mostafavi lab, Moore lab, Jones lab, Heinig lab, Gupta lab, Grimes lab, Gazal lab, Dey lab, Ciccia lab, Brennand lab, U24HG012070, U24HG012012, U01HG012103, U01HG012079, U01HG012059, U01HG012051, U01HG012047, U01HG012041, U01HG012069, U01HG012064, U01HG012039, U01HG012022, U01HG012009, U01HG011967, U01HG011952, UM1HG012077, UM1HG012076, UM1HG011986, UM1HG012053, UM1HG012010, UM1HG012003, UM1HG011996, UM1HG011989, UM1HG011972 & Samer, E. K., 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, Lodhi, I. J., Mittendorfer, B. & Razani, B., 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, Baxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Bergelson, L., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D., Chen, S., Chisholm, R. L., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Collins, R. L., Connolly, K. M., Correa, A., Covarrubias, M., Cummings, B., Dabelea, D., Danesh, J., Darbar, D., Denny, J., Donnelly, S., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Farjoun, Y., Fatkin, D., Ferriera, S., Florez, J., Franke, A., Färkkilä, M., Gabriel, S., Garimella, K., Gauthier, L. D., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Gupta, N., Haessly, A., Haiman, C., Hall, I., Hanis, C., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Jeandet, T., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E., Kim, B. J., Kim, Y. J., Kirov, G., Koenig, Z., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Llanwarne, C., Loos, R. J. F., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Martin, A. R., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Munshi, R., Naheed, A., Nazarian, S., Nilsson, P. M., Novod, S., O’Donnell-Luria, A. H., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Petrillo, N., Phu, W., Poterba, T., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roazen, D., Roden, D. M., Rotter, J. I., Ruano-Rubio, V., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E., Seed, C., Shah, S. H., Shand, M., Shoemaker, M. B., Shyong, T., Silverman, E. K., Sklar, P., Smith, J. G., Smith, J. T., Soininen, H., Sokol, H., Son, R. G., Soto, J., Spector, T., Stevens, C., Stitziel, N., Sullivan, P. F., Suvisaari, J., Tai, E. S., Talkowski, M. E., Tarasova, Y., Taylor, K. D., Teo, Y. Y., Tibbetts, K., Tolonen, C., Tsuang, M., Tuomi, T., Turner, D., Tusie-Luna, T., Vartiainen, E., Vawter, M., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J. S., Watkins, H., Weersma, R. K., Weisburd, B., Wessman, M., Whiffin, N., Wilson, M. W., Wilson, J. G., Xavier, R. J., Yohannes, M. T., Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H. L., Daly, M. J., O’Donnell-Luria, A., Karczewski, K. J., MacArthur, D. G. & Samocha, K. E., 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 Access
  2 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 Access
  2 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, Bleckwehl, T., Ma, P., Lee, P., Terada, Y., Fu, A., Furtado, M., Kreisel, D., Kovacs, A., Stitziel, N. O., Jackson, S., Li, C. M., Liu, Y., Rosenthal, N. A., Kramann, R., Ason, B. & Lavine, K. J., 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 Access
  2 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 Access
  15 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, Arca, M. & Stitziel, N. O., Nov 7 2023, In: Circulation. 148, 19, p. 1479-1489 11 p.

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

  Open Access
  15 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, Gordon, 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
  25 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 Access
  1 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 Access
  3 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 Access
  3 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 Access
  21 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 Access
  7 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, Clarke, S. L., Terry, J. G., Palmer, N. D., Yanek, L. R., Xu, H., Heard-Costa, N., Wessel, J., Selvaraj, M. S., Li, R. H., Sun, X., Turner, A. W., Stilp, A. M., Khan, A., Newman, A. B., Rasheed, A., Freedman, B. I., Kral, B. G., McHugh, C. P., Hodonsky, C., Saleheen, D., Herrington, D. M., Jacobs, D. R., Nickerson, D. A., Boerwinkle, E., Wang, F. F., Heiss, G., Jun, G., Kinney, G. L., Sigurslid, H. H., Doddapaneni, H. V., Hall, I. M., Bensenor, I. M., Broome, J., Crapo, J. D., Wilson, J. G., Smith, J. A., Blangero, J., Vargas, J. D., Mosquera, J. V., Smith, J. D., Viaud-Martinez, K. A., Ryan, K. A., Young, K. A., Taylor, K. D., Lange, L. A., Emery, L. S., Bittencourt, M. S., Budoff, M. J., Montasser, M. E., Yu, M., Mahaney, M. C., Mahamdeh, M. S., Fornage, M., Franceschini, N., Lotufo, P. A., Natarajan, P., Wong, Q., Mathias, R. A., Gibbs, R. A., Do, R., Mehran, R., Tracy, R. P., Kim, R. W., Nelson, S. C., Damrauer, S. M., Kardia, S. L. R., Rich, S. S., Fuster, V., Napolioni, V., Zhao, W., Tian, W., Yin, X., Min, Y. I., Manning, A. K., Peloso, G., Kelly, T. N., O’Donnell, C. J., Morrison, A. C., Curran, J. E., Zapol, W. M., Bowden, D. W., Becker, L. C., Correa, A., Mitchell, B. D., Psaty, B. M., Carr, J. J., Pereira, A. C., Assimes, T. L., Stitziel, N. O., Hokanson, J. E., Laurie, C. A., Rotter, J. I., Vasan, R. S., Post, W. S., Peyser, P. A., Miller, C. L. & Malhotra, R., 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 Access
  9 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
  100 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
  30 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 Access
  95 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 Access
  7 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, 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

  Open Access
  19 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
  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, 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
  12 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 Access
  43 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, Lloyd-Jones, D. M., Lemaitre, R. N., Bis, J. C., Floyd, J. S., Kinney, G. L., Bowden, D. W., Palmer, N. D., Benjamin, E. J., Nayor, M., Yanek, L. R., Kral, B. G., Becker, L. C., Kardia, S. L. R., Smith, J. A., Bielak, L. F., Norwood, A. F., Min, Y. I., Carson, A. P., Post, W. S., Rich, S. S., Herrington, D., Guo, X., Taylor, K. D., Manson, J. E., Franceschini, N., Pollard, K. S., Mitchell, B. D., Loos, R. J. F., Fornage, M., Hou, L., Psaty, B. M., Young, K. A., Regan, E. A., Freedman, B. I., Vasan, R. S., Levy, D., Mathias, R. A., Peyser, P. A., Raffield, L. M., Kooperberg, C., Reiner, A. P., Rotter, J. I., Jun, G., de Vries, P. S. & Assimes, T. L., 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 Access
  1 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 Access
  118 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 Access
  27 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
  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 Access
  27 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 Access
  123 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
  21 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 Access
  12 Scopus citations