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• A clinical approach to inherited premature coronary artery disease

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

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

  Open Access
  5 Scopus citations

• A general approach to single-nucleotide polymorphism discovery

  Marth, G. T., Korf, I., Yandell, M. D., Yeh, R. T., Gu, Z., Zakeri, H., Stitziel, N. O., Hillier, L. D., Kwok, P. Y. & Gish, W. R., Dec 1999, In: Nature Genetics. 23, 4, p. 452-456 5 p.

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

• 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
  193 Scopus citations

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

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

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

  Open Access
  16 Scopus citations

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

  Brownstein, C. A., Beggs, A. H., Homer, N., Merriman, B., Yu, T. W., Flannery, K. C., DeChene, E. T., Towne, M. C., Savage, S. K., Price, E. N., Holm, I. A., Luquette, L. J., Lyon, E., Majzoub, J., Neupert, P., McCallie, D., Szolovits, P., Willard, H. F., Mendelsohn, N. J., Temme, R. & 178 others, Finkel, R. S., Yum, S. W., Medne, L., Sunyaev, S. R., Adzhubey, I., Cassa, C. A., De Bakker, P. I. W., Duzkale, H., Dworzyński, P., Fairbrother, W., Francioli, L., Funke, B. H., Giovanni, M. A., Handsaker, R. E., Lage, K., Lebo, M. S., Lek, M., Leshchiner, I., MacArthur, D. G., McLaughlin, H. M., Murray, M. F., Pers, T. H., Polak, P. P., Raychaudhuri, S., Rehm, H. L., Soemedi, R., Stitziel, N. O., Vestecka, S., Supper, J., Gugenmus, C., Klocke, B., Hahn, A., Schubach, M., Menzel, M., Biskup, S., Freisinger, P., Deng, M., Braun, M., Perner, S., Smith, R. J. H., Andorf, J. L., Huang, J., Ryckman, K., Sheffield, V. C., Stone, E. M., Bair, T., Ann Black-Ziegelbein, E., Braun, T. A., Darbro, B., DeLuca, A. P., Kolbe, D. L., Scheetz, T. E., Shearer, A. E., Sompallae, R., Wang, K., Bassuk, A. G., Edens, E., Mathews, K., Moore, S. A., Shchelochkov, O. A., Trapane, P., Bossler, A., Campbell, C. A., Heusel, J. W., Kwitek, A., Maga, T., Panzer, K., Wassink, T., Van Daele, D., Azaiez, H., Booth, K., Meyer, N., Segal, M. M., Williams, M. S., Tromp, G., White, P., Corsmeier, D., Fitzgerald-Butt, S., Herman, G., Lamb-Thrush, D., McBride, K. L., Newsom, D., Pierson, C. R., Rakowsky, A. T., Maver, A., Lovrečić, L., Palandačić, A., Peterlin, B., Torkamani, A., Wedell, A., Huss, M., Alexeyenko, A., Lindvall, J. M., Magnusson, M., Nilsson, D., Stranneheim, H., Taylan, F., Gilissen, C., Hoischen, A., Van Bon, B., Yntema, H., Nelen, M., Zhang, W., Sager, J., Zhang, L., Blair, K., Kural, D., Cariaso, M., Lennon, G. G., Javed, A., Agrawal, S., Ng, P. C., Sandhu, K. S., Krishna, S., Veeramachaneni, V., Isakov, O., Halperin, E., Friedman, E., Shomron, N., Glusman, G., Roach, J. C., Caballero, J., Cox, H. C., Mauldin, D., Ament, S. A., Rowen, L., Richards, D. R., Anthony San Lucas, F., Gonzalez-Garay, M. L., Thomas Caskey, C., Bai, Y., Huang, Y., Fang, F., Zhang, Y., Wang, Z., Barrera, J., Garcia-Lobo, J. M., González-Lamuño, D., Llorca, J., Rodriguez, M. C., Varela, I., Reese, M. G., De La Vega, F. M., Kiruluta, E., Cargill, M., Hart, R. K., Sorenson, J. M., Lyon, G. J., Stevenson, D. A., Bray, B. E., Moore, B. M., Eilbeck, K., Yandell, M., Zhao, H., Hou, L., Chen, X., Yan, X., Chen, M., Li, C., Yang, C., Gunel, M., Li, P., Kong, Y., Alexander, A. C., Albertyn, Z. I., Boycott, K. M., Bulman, D. E., Gordon, P. M. K., Micheil Innes, A., Knoppers, B. M., Majewski, J., Marshall, C. R., Parboosingh, J. S., Sawyer, S. L., Samuels, M. E., Schwartzentruber, J., Kohane, I. S. & Margulies, D. M., 2014, In: Genome biology. 15, 3, R53.

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

  Open Access
  79 Scopus citations

• APOE p.Leu167del mutation in familial hypercholesterolemia

  Awan, Z., Choi, H. Y., Stitziel, N., Ruel, I., Bamimore, M. A., Husa, R., Gagnon, M. H., Wang, R. H. L., Peloso, G. M., Hegele, R. A., Seidah, N. G., Kathiresan, S. & Genest, J., Dec 2013, In: Atherosclerosis. 231, 2, p. 218-222 5 p.

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

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

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

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

  Open Access
  27 Scopus citations

• Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

  Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., Morrison, A. C., Stitziel, N. O., Brody, J. A., Khetarpal, S. A., Crosby, J. R., Fornage, M., Isaacs, A., Jakobsdottir, J., Feitosa, M. F., Davies, G., Huffman, J. E., Manichaikul, A., Davis, B., Lohman, K., Joon, A. Y., Smith, A. V. & 79 others, Grove, M. L., Zanoni, P., Redon, V., Demissie, S., Lawson, K., Peters, U., Carlson, C., Jackson, R. D., Ryckman, K. K., MacKey, R. H., Robinson, J. G., Siscovick, D. S., Schreiner, P. J., Mychaleckyj, J. C., Pankow, J. S., Hofman, A., Uitterlinden, A. G., Harris, T. B., Taylor, K. D., Stafford, J. M., Reynolds, L. M., Marioni, R. E., Dehghan, A., Franco, O. H., Patel, A. P., Lu, Y., Hindy, G., Gottesman, O., Bottinger, E. P., Melander, O., Orho-Melander, M., Loos, R. J. F., Duga, S., Merlini, P. A., Farrall, M., Goel, A., Asselta, R., Girelli, D., Martinelli, N., Shah, S. H., Kraus, W. E., Li, M., Rader, D. J., Reilly, M. P., McPherson, R., Watkins, H., Ardissino, D., Zhang, Q., Wang, J., Tsai, M. Y., Taylor, H. A., Correa, A., Griswold, M. E., Lange, L. A., Starr, J. M., Rudan, I., Eiriksdottir, G., Launer, L. J., Ordovas, J. M., Levy, D., Chen, Y. D. I., Reiner, A. P., Hayward, C., Polasek, O., Deary, I. J., Borecki, I. B., Liu, Y., Gudnason, V., Wilson, J. G., Van Duijn, C. M., Kooperberg, C., Rich, S. S., Psaty, B. M., Rotter, J. I., O'Donnell, C. J., Rice, K., Boerwinkle, E., Kathiresan, S. & Cupples, L. A., Feb 6 2014, In: American journal of human genetics. 94, 2, p. 223-232 10 p.

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

  Open Access
  206 Scopus citations

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

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

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

  Open Access
  93 Scopus citations

• Association of structural variation with cardiometabolic traits in Finns

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

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

• 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

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

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

  Research output: Contribution to journal › Comment/debate

  Open Access

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

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

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

• Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: A pooled analysis

  Minicocci, I., Santini, S., Cantisani, V., Stitziel, N., Kathiresan, S., Arroyo, J. A., Martí, G., Pisciotta, L., Noto, D., Cefalù, A. B., Maranghi, M., Labbadia, G., Pigna, G., Pannozzo, F., Ceci, F., Ciociola, E., Bertolini, S., Calandra, S., Tarugi, P., Averna, M. & 1 others, Arca, M., Dec 2013, In: Journal of lipid research. 54, 12, p. 3481-3490 10 p.

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

  Open Access
  45 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
  148 Scopus citations

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

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

  Research output: Contribution to journal › Article › peer-review
  290 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

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

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

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

  Open Access
  14 Scopus citations

• Computational and statistical approaches to analyzing variants identified by exome sequencing

  Stitziel, N. O., Kiezun, A. & Sunyaev, S., Sep 14 2011, In: Genome biology. 12, 9, 227.

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

  Open Access
  98 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
  10 Scopus citations

• Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

  Marduel, M., Ouguerram, K., Serre, V., Bonnefont-Rousselot, D., Marques-Pinheiro, A., Erik Berge, K., Devillers, M., Luc, G., Lecerf, J. M., Tosolini, L., Erlich, D., Peloso, G. M., Stitziel, N., Nitchké, P., Jaïs, J. P., Abifadel, M., Kathiresan, S., Leren, T. P., Rabès, J. P., Boileau, C. & 1 others, Varret, M., Jan 2013, In: Human mutation. 34, 1, p. 83-87 5 p.

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

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

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

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

• 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

• Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

  Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., Chan, Y., Salem, R. M., Lek, M., Flannick, J., Sim, X., Manning, A., Ladenvall, C., Bumpstead, S., Hämäläinen, E., Aalto, K. & 40 others, Maksimow, M., Salmi, M., Blankenberg, S., Ardissino, D., Shah, S., Horne, B., McPherson, R., Hovingh, G. K., Reilly, M. P., Watkins, H., Goel, A., Farrall, M., Girelli, D., Reiner, A. P., Stitziel, N. O., Kathiresan, S., Gabriel, S., Barrett, J. C., Lehtimäki, T., Laakso, M., Groop, L., Kaprio, J., Perola, M., McCarthy, M. I., Boehnke, M., Altshuler, D. M., Lindgren, C. M., Hirschhorn, J. N., Metspalu, A., Freimer, N. B., Zeller, T., Jalkanen, S., Koskinen, S., Raitakari, O., Durbin, R., MacArthur, D. G., Salomaa, V., Ripatti, S., Daly, M. J. & Palotie, A., Jul 2014, In: PLoS genetics. 10, 7, e1004494.

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

  Open Access
  208 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

• Emerging Targets for Cardiovascular Disease Prevention in Diabetes

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

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

• Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

  Stitziel, N. O., Fouchier, S. W., Sjouke, B., Peloso, G. M., Moscoso, A. M., Auer, P. L., Goel, A., Gigante, B., Barnes, T. A., Melander, O., Orho-Melander, M., Duga, S., Sivapalaratnam, S., Nikpay, M., Martinelli, N., Girelli, D., Jackson, R. D., Kooperberg, C., Lange, L. A., Ardissino, D. & 17 others, McPherson, R., Farrall, M., Watkins, H., Reilly, M. P., Rader, D. J., De Faire, U., Schunkert, H., Erdmann, J., Samani, N. J., Charnas, L., Altshuler, D., Gabriel, S., Kastelein, J. J. P., Defesche, J. C., Nederveen, A. J., Kathiresan, S. & Hovingh, G. K., Dec 2013, In: Arteriosclerosis, thrombosis, and vascular biology. 33, 12, p. 2909-2914 6 p.

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

  Open Access
  67 Scopus citations

• Exome sequencing and the genetic basis of complex traits

  Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., Hultman, C. M., Lichtenstein, P., Magnusson, P., Lehner, T., Shugart, Y. Y., Price, A. L., De Bakker, P. I. W., Purcell, S. M. & Sunyaev, S. R., Jun 2012, In: Nature Genetics. 44, 6, p. 623-630 8 p.

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

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

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

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

• Exome Sequencing in Suspected Monogenic Dyslipidemias

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

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

  Open Access
  30 Scopus citations

• 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
  44 Scopus citations

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

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

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

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

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

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

• Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

  Coste, B., Houge, G., Murray, M. F., Stitziel, N., Bandell, M., Giovanni, M. A., Philippakis, A., Hoischen, A., Riemer, G., Steen, U., Steen, V. M., Mathur, J., Cox, J., Lebo, M., Rehm, H., Weiss, S. T., Wood, J. N., Maas, R. L., Sunyaev, S. R. & Patapoutian, A., Mar 19 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 12, p. 4667-4672 6 p.

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

  Open Access
  137 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
  32 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
  11 Scopus citations

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

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

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

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

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

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

• 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
  11 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
  19 Scopus citations

• Human genetic insights into lipoproteins and risk of cardiometabolic disease

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

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

• Identification of medically actionable secondary findings in the 1000 genomes

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

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

  Open Access
  55 Scopus citations

• Inactivating mutations in NPC1L1 and protection from coronary heart disease

  The Myocardial Infarction Genetics Consortium Investigators, Nov 27 2014, In: New England Journal of Medicine. 371, 22, p. 2072-2082 11 p.

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

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

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

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

  Open Access
  9 Scopus citations

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

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

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

  Open Access
  2 Scopus citations

• Leveraging human genetics to guide drug target discovery

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

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

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

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

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

  Open Access
  85 Scopus citations

• Loss-of-function mutations in APOC3, triglycerides, and coronary disease

  Crosby, J., Peloso, G. M., Auer, P. L., Crosslin, D. R., Stitziel, N. O., Lange, L. A., Lu, Y., Tang, Z. Z., Zhang, H., Hindy, G., Masca, N., Stirrups, K., Kanoni, S., Do, R., Jun, G., Hu, Y., Kang, H. M., Xue, C., Goel, A., Farrall, M. & 66 others, Duga, S., Merlini, P. A., Asselta, R., Girelli, D., Olivieri, O., Martinelli, N., Yin, W., Reilly, D., Speliotes, E., Fox, C. S., Hveem, K., Holmen, O. L., Nikpay, M., Farlow, D. N., Assimes, T. L., Franceschini, N., Robinson, J., North, K. E., Martin, L. W., DePristo, M., Gupta, N., Escher, S. A., Jansson, J. H., Van Zuydam, N., Palmer, C. N. A., Wareham, N., Koch, W., Meitinger, T., Peters, A., Lieb, W., Erbel, R., Konig, I. R., Kruppa, J., Degenhardt, F., Gottesman, O., Bottinger, E. P., O'Donnell, C. J., Psaty, B. M., Ballantyne, C. M., Abecasis, G., Ordovas, J. M., Melander, O., Watkins, H., Orho-Melander, M., Ardissino, D., Loos, R. J. F., McPherson, R., Willer, C. J., Erdmann, J., Hall, A. S., Samani, N. J., Deloukas, P., Schunkert, H., Wilson, J. G., Kooperberg, C., Rich, S. S., Tracy, R. P., Lin, D. Y., Altshuler, D., Gabriel, S., Nickerson, D. A., Jarvik, G. P., Cupples, L. A., Reiner, A. P., Boerwinkle, E. & Kathiresan, S., 2014, In: New England Journal of Medicine. 371, 1, p. 22-31 10 p.

  Research output: Contribution to journal › Article › peer-review
  654 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
  32 Scopus citations

• Membrane-associated and secreted genes in breast cancer

  Stitziel, N. O., Mar, B. G., Liang, J. & Westbrook, C. A., Dec 1 2004, In: Cancer research. 64, 23, p. 8682-8687 6 p.

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

  Open Access
  17 Scopus citations