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2015
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 Access9 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 journal › Article › peer-review
Open Access6 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 , 2014, In: Genome biology. 15, 3, R53.Research output: Contribution to journal › Article › peer-review
Open Access84 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 , 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 Access223 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 , Jul 2014, In: PLoS genetics. 10, 7, e1004494.Research output: Contribution to journal › Article › peer-review
Open Access222 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
322 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 , 2014, In: New England Journal of Medicine. 371, 1, p. 22-31 10 p.Research output: Contribution to journal › Article › peer-review
717 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 Access165 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
70 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 , Dec 2013, In: Journal of lipid research. 54, 12, p. 3481-3490 10 p.Research output: Contribution to journal › Article › peer-review
Open Access49 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 , Jan 2013, In: Human mutation. 34, 1, p. 83-87 5 p.Research output: Contribution to journal › Article › peer-review
90 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 , Dec 2013, In: Arteriosclerosis, thrombosis, and vascular biology. 33, 12, p. 2909-2914 6 p.Research output: Contribution to journal › Article › peer-review
Open Access69 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 -
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
295 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 Access100 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
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-D522Research output: Contribution to journal › Article › peer-review
80 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
71 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
386 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