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• 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

• 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
  6 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
  100 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

• Reply: Loss-of-Function Mutations to Estimate Pharmacological ANGPTL3 Inhibition

  Stitziel, N. O., Musunuru, K. & Kathiresan, S., Oct 17 2017, In: Journal of the American College of Cardiology. 70, 16, p. 2099-2100 2 p.

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

  Open Access
  1 Scopus citations

• 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

• 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

• 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
  13 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
  20 Scopus citations

• Prognostic value of diastolic filling parameters derived using a novel image processing technique in patients ≥70 years of age with congestive heart failure

  Rich, M. W., Stitziel, N. O. & Kovács, S. J., Jul 1 1999, In: American Journal of Cardiology. 84, 1, p. 82-86 5 p.

  Research output: Contribution to journal › Article › peer-review
  33 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

• 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
  386 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
  9 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
  295 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

• Structural location of disease-associated single-nucleotide polymorphisms

  Stitziel, N. O., Tseng, Y. Y., Pervouchine, D., Goddeau, D., Kasif, S. & Liang, J., Apr 11 2003, In: Journal of Molecular Biology. 327, 5, p. 1021-1030 10 p.

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

• topoSNP: A topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association

  Stitziel, N. O., Binkowski, T. A., Tseng, Y. Y., Kasif, S. & Liang, J., Jan 1 2004, In: Nucleic acids research. 32, DATABASE ISS., p. D520-D522

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

  80 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
  17 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
  16 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 othersVarret, M., Jan 2013, In: Human mutation. 34, 1, p. 83-87 5 p.

  Research output: Contribution to journal › Article › peer-review
  90 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 othersArca, 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
  49 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
  3 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
  100 Scopus citations

• New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

  Elbitar, S., Susan-Resiga, D., Ghaleb, Y., El Khoury, P., Peloso, G., Stitziel, N., Rabès, J. P., Carreau, V., Hamelin, J., Ben-Djoudi-Ouadda, A., Bruckert, E., Boileau, C., Seidah, N. G., Varret, M. & Abifadel, M., Dec 1 2018, In: Scientific reports. 8, 1, 1943.

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

  Open Access
  18 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

• 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
  230 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
  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
  13 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

• 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
  2 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
  60 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
  14 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 othersLaakso, M., Locke, A., Stitziel, N. O. & Hall, I. M., Dec 2021, In: Human genomics. 15, 1, 34.

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

  Open Access
  2 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
  4 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
  5 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
  148 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 othersMcPherson, 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
  69 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
  17 Scopus citations

• 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

• 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
  70 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
  29 Scopus citations

• Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting

  Natarajan, P., Young, R., Stitziel, N. O., Padmanabhan, S., Baber, U., Mehran, R., Sartori, S., Fuster, V., Reilly, D. F., Butterworth, A., Rader, D. J., Ford, I., Sattar, N. & Kathiresan, S., May 30 2017, In: Circulation. 135, 22, p. 2091-2101 11 p.

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

  Open Access
  234 Scopus citations

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

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

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

  Open Access
  15 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 othersPalotie, A., Ripatti, S., Freimer, N. B., Locke, A. E., Stitziel, N. O. & Hall, I. M., Apr 1 2021, In: American journal of human genetics. 108, 4, p. 583-596 14 p.

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

  Open Access
  4 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 othersRuel, 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
  36 Scopus citations

• Roadmap for a precision-medicine initiative in the Nordic region

  Njølstad, P. R., Andreassen, O. A., Brunak, S., Børglum, A. D., Dillner, J., Esko, T., Franks, P. W., Freimer, N., Groop, L., Heimer, H., Hougaard, D. M., Hovig, E., Hveem, K., Jalanko, A., Kaprio, J., Knudsen, G. P., Melbye, M., Metspalu, A., Mortensen, P. B., Palmgren, J., & 11 othersPalotie, A., Reed, W., Stefánsson, H., Stitziel, N. O., Sullivan, P. F., Thorsteinsdóttir, U., Vaudel, M., Vuorio, E., Werge, T., Stoltenberg, C. & Stefánsson, K., Jun 1 2019, In: Nature Genetics. 51, 6, p. 924-930 7 p.

  Research output: Contribution to journal › Comment/debate
  11 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
  53 Scopus citations

• Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

  Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Wouter Jukema, J., De Craen, A., Deloukas, P., Sattar, N., Ford, I., Packard, C., Majumder, A. A. S., Alam, D. S., Di Angelantonio, E., & 29 othersAbecasis, G., Chowdhury, R., Erdmann, J., Nordestgaard, B. G., Nielsen, S. F., Tybjærg-Hansen, A., Ruth Frikke Schmidt, F. S., Kuulasmaa, K., Liu, D. J., Perola, M., Blankenberg, S., Salomaa, V., Männistö, S., Amouyel, P., Arveiler, D., Ferrieres, J., Möller-Nurasyid, M., Ferrario, M., Kee, F., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Howson, J. M. M., Peloso, G. M., Stitziel, N. O., Danesh, J., Kathiresan, S. & Rader, D. J., Mar 11 2016, In: Science. 351, 6278, p. 1166-1171 6 p.

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

• Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

  CHARGE–Heart Failure Consortium & CARDIoGRAM Exome Consortium, Dec 27 2016, In: Journal of the American College of Cardiology. 68, 25, p. 2761-2772 12 p.

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

  Open Access
  116 Scopus citations

• 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 othersMaksimow, 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
  222 Scopus citations