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  • 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 journalArticlepeer-review

  • 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 journalArticlepeer-review

    Open Access
  • 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., Razani, B., Mecham, R. P. & Stitziel, N., Mar 24 2021, In: Science translational medicine. 13, 586, eabe0357.

    Research output: Contribution to journalArticlepeer-review

  • 2020

    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 journalArticlepeer-review

    12 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 journalArticlepeer-review

    21 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 journalArticlepeer-review

    4 Scopus citations
  • 2019

    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 journalArticlepeer-review

    Open Access
    7 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 journalArticlepeer-review

    31 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 journalArticlepeer-review

    4 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 journalArticlepeer-review

    Open Access
    23 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 journalArticlepeer-review

    Open Access
    1 Scopus citations
  • 2018

    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 journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Phenotypic consequences of a genetic predisposition to enhanced nitric oxide signaling

    Emdin, C. A., Khera, A. V., Klarin, D., Natarajan, P., Zekavat, S. M., Nomura, A., Haas, M., Aragam, K., Ardissino, D., Wilson, J. G., Schunkert, H., McPherson, R., Watkins, H., Elosua, R., Bown, M. J., Samani, N. J., Baber, U., Erdmann, J., Gormley, P., Palotie, A. & 6 others, Stitziel, N. O., Gupta, N., Danesh, J., Saleheen, D., Gabriel, S. & Kathiresan, S., 2018, In: Circulation. 137, 3, p. 222-232 11 p.

    Research output: Contribution to journalArticlepeer-review

    37 Scopus citations
  • Rare loss of function variants in candidate genes and risk of colorectal cancer

    NHLBI GO Exome Sequencing Project, Pulmonary Arterial Hypertension (PAH), Severe Asthma Research Program (SARP), Women’s Health Initiative (WHI), Anthropometry Project Team, Blood Count/Hematology Project Team, Blood Pressure Project Team, Data Flow Working Group, Early MI Project Team, ELSI Working Group, Executive Committee, Family Study Project Team, Lipids Project Team, Lung Project Team, Personal Genomics Project Team, Phenotype and Harmonization Working Group, Population Genetics and Statistical Analysis Working Group, Publications and Presentations Working Group, Quantitative Analysis Ad Hoc Task Group, Sequencing and Genotyping Working Group & 15 others, Steering Committee, Stroke Project Team, Structural Variation Working Group, Subclinical/Quantitative Project Team, Acute Lung Injury (ALI), Atherosclerosis Risk in Communities (ARIC), Cardiovascular Health Study (CHS), Chronic Obstructive Pulmonary Disease (COPDGene), Coronary Artery Risk Development in Young Adults (CARDIA), Cystic Fibrosis (CF), Early Pseudomonas Infection Control (EPIC), Framingham Heart Study (FHS), Jackson Heart Study (JHS), Lung Health Study (LHS) & Multi-Ethnic Study of Atherosclerosis (MESA), Oct 1 2018, In: Human genetics. 137, 10, p. 795-806 12 p.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • 2017

    ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

    PROMIS and Myocardial Infarction Genetics Consortium Investigators, Apr 25 2017, In: Journal of the American College of Cardiology. 69, 16, p. 2054-2063 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    154 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 journalArticlepeer-review

    Open Access
    82 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 journalArticlepeer-review

    209 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 journalArticlepeer-review

    16 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 journalArticlepeer-review

    Open Access
    166 Scopus citations
  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

    Webb, T. R., Erdmann, J., Stirrups, K. E., Stitziel, N. O., Masca, N. G. D., Jansen, H., Kanoni, S., Nelson, C. P., Ferrario, P. G., König, I. R., Eicher, J. D., Johnson, A. D., Hamby, S. E., Betsholtz, C., Ruusalepp, A., Franzén, O., Schadt, E. E., Björkegren, J. L. M., Weeke, P. E., Auer, P. L. & 114 others, 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., 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., El-Mokhtari, N. E., Franke, A., 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., Virtamo, J., Nikpay, M., Olivieri, O., Provost, S., AlQarawi, A., Robertson, N. R., Akinsansya, K. O., Reilly, D. F., Vogt, T. F., Yin, W., Asselbergs, F. W., Kooperberg, C., Jackson, R. D., Stahl, E., Müller-Nurasyid, M., Strauch, K., Varga, T. V., Waldenberger, M., Zeng, L., Chowdhury, R., Salomaa, V., Ford, I., Jukema, J. W., Amouyel, P., Kontto, J., Nordestgaard, B. G., Ferrières, J., Saleheen, D., Sattar, N., Surendran, P., Wagner, A., 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., Samani, N. J., Schunkert, H., Deloukas, P. & Kathiresan, S., Feb 21 2017, In: Journal of the American College of Cardiology. 69, 7, p. 823-836 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    114 Scopus citations
  • 2016

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

    Stitziel, N. O., Stirrups, K. E., Masca, N. G. D., Erdmann, J., Ferrario, P. G., König, I. R., Weeke, P. E., Webb, T. R., Auer, P. L., Schick, U. M., Lu, Y., Zhang, H., Dube, M. P., Goel, A., Farrall, M., Peloso, G. M., Won, H. H., Do, R., Van Iperen, E., Kanoni, S. & 109 others, 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 journalArticlepeer-review

    264 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 journalArticlepeer-review

    Open Access
    13 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 journalArticlepeer-review

    Open Access
    78 Scopus citations
  • Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

    Liu, C., Kraja, A. T., Smith, J. A., Brody, J. A., Franceschini, N., Bis, J. C., Rice, K., Morrison, A. C., Lu, Y., Weiss, S., Guo, X., Palmas, W., Martin, L. W., Chen, Y. D. I., Surendran, P., Drenos, F., Cook, J. P., Auer, P. L., Chu, A. Y., Giri, A. & 75 others, Zhao, W., Jakobsdottir, J., Lin, L. A., Stafford, J. M., Amin, N., Mei, H., Yao, J., Voorman, A., Larson, M. G., Grove, M. L., Smith, A. V., Hwang, S. J., Chen, H., Huan, T., Kosova, G., Stitziel, N. O., Kathiresan, S., Samani, N., Schunkert, H., Deloukas, P., Li, M., Fuchsberger, C., Pattaro, C., Gorski, M., Kooperberg, C., Papanicolaou, G. J., Rossouw, J. E., Faul, J. D., Kardia, S. L. R., Bouchard, C., Raffel, L. J., Uitterlinden, A. G., Franco, O. H., Vasan, R. S., O'Donnell, C. J., Taylor, K. D., Liu, K., Bottinger, E. P., Gottesman, O., Daw, E. W., Giulianini, F., Ganesh, S., Salfati, E., Harris, T. B., Launer, L. J., Dörr, M., Felix, S. B., Rettig, R., Völzke, H., Kim, E., Lee, W. J., Lee, I. T., Sheu, W. H. H., Tsosie, K. S., Edwards, D. R. V., Liu, Y., Correa, A., Weir, D. R., Völker, U., Ridker, P. M., Boerwinkle, E., Gudnason, V., Reiner, A. P., Van Duijn, C. M., Borecki, I. B., Edwards, T. L., Chakravarti, A., Rotter, J. I., Psaty, B. M., Loos, R. J. F., Fornage, M., Ehret, G. B., Newton-Cheh, C., Levy, D. & Chasman, D. I., Oct 1 2016, In: Nature Genetics. 48, 10, p. 1162-1170 9 p.

    Research output: Contribution to journalArticlepeer-review

    122 Scopus citations
  • Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

    Natarajan, P., Bis, J. C., Bielak, L. F., Cox, A. J., Dörr, M., Feitosa, M. F., Franceschini, N., Guo, X., Hwang, S. J., Isaacs, A., Jhun, M. A., Kavousi, M., Li-Gao, R., Lyytikäinen, L. P., Marioni, R. E., Schminke, U., Stitziel, N. O., Tada, H., Van Setten, J., Smith, A. V. & 80 others, Vojinovic, D., Yanek, L. R., Yao, J., Yerges-Armstrong, L. M., Amin, N., Baber, U., Borecki, I. B., Carr, J. J., Chen, Y. D. I., Cupples, L. A., De Jong, P. A., De Koning, H., De Vos, B. D., Demirkan, A., Fuster, V., Franco, O. H., Goodarzi, M. O., Harris, T. B., Heckbert, S. R., Heiss, G., Hoffmann, U., Hofman, A., Išgum, I., Jukema, J. W., Kähönen, M., Kardia, S. L. R., Kral, B. G., Launer, L. J., Massaro, J., Mehran, R., Mitchell, B. D., Mosley, T. H., De Mutsert, R., Newman, A. B., Nguyen, K. D., North, K. E., O'Connell, J. R., Oudkerk, M., Pankow, J. S., Peloso, G. M., Post, W., Province, M. A., Raffield, L. M., Raitakari, O. T., Reilly, D. F., Rivadeneira, F., Rosendaal, F., Sartori, S., Taylor, K. D., Teumer, A., Trompet, S., Turner, S. T., Uitterlinden, A. G., Vaidya, D., Van Der Lugt, A., Völker, U., Wardlaw, J. M., Wassel, C. L., Weiss, S., Wojczynski, M. K., Becker, D. M., Becker, L. C., Boerwinkle, E., Bowden, D. W., Deary, I. J., Dehghan, A., Felix, S. B., Gudnason, V., Lehtimäki, T., Mathias, R., Mook-Kanamori, D. O., Psaty, B. M., Rader, D. J., Rotter, J. I., Wilson, J. G., Van Duijn, C. M., Völzke, H., Kathiresan, S., Peyser, P. A. & O'Donnell, C. J., Dec 1 2016, In: Circulation: Cardiovascular Genetics. 9, 6, p. 511-520 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 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 journalArticlepeer-review

    Open Access
    88 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 others, Abecasis, 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 journalArticlepeer-review

    278 Scopus citations
  • 2015

    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 journalArticlepeer-review

    Open Access
    26 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 journalArticlepeer-review

    391 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 journalArticlepeer-review

    Open Access
    30 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 journalArticlepeer-review

    305 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 journalArticlepeer-review

    Open Access
    50 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 journalArticlepeer-review

    Open Access
    8 Scopus citations
  • 2014

    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 journalArticlepeer-review

    Open Access
    5 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 journalArticlepeer-review

    Open Access
    77 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 journalArticlepeer-review

    Open Access
    197 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 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 journalArticlepeer-review

    Open Access
    202 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 journalArticlepeer-review

    281 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 journalArticlepeer-review

    614 Scopus citations
  • Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

    The NHLBI Grand Opportunity Exome Sequencing Project & Locke, A., Feb 6 2014, In: American journal of human genetics. 94, 2, p. 233-245 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    152 Scopus citations
  • 2013

    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 journalArticlepeer-review

    59 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 journalArticlepeer-review

    Open Access
    38 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 journalArticlepeer-review

    77 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 journalArticlepeer-review

    Open Access
    66 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 journalArticlepeer-review

    Open Access
    129 Scopus citations
  • 2004

    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 journalArticlepeer-review

    Open Access
    17 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 journalArticlepeer-review

    73 Scopus citations
  • 2003

    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 journalArticlepeer-review

    68 Scopus citations
  • 1999

    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 journalArticlepeer-review

    379 Scopus citations
  • 33 Scopus citations