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• 2014

  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

• 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

• 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

• 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

• 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

• 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 journal › Article › peer-review

  Open Access
  155 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 journal › Article › peer-review
  63 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

• 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

• 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

• 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
• 2012

  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
• 2011

  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
• 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 journal › Article › peer-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 journal › Article › peer-review

  76 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 journal › Article › peer-review
  69 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 journal › Article › peer-review
  380 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