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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 Access6 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
386 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 Access230 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 Access17 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 -
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 -
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 Access27 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 -
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 , 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 Access107 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 , 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 Access4 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. E4Research output: Contribution to journal › Comment/debate
Open Access2 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 -
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 -
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
Open Access221 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 , Mar 24 2016, In: New England Journal of Medicine. 374, 12, p. 1134-1144 11 p.Research output: Contribution to journal › Article › peer-review
Open Access320 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. e3Research output: Contribution to journal › Letter › peer-review
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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 Access15 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 Access100 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 Access13 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 -
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 -
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
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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 -
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
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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 -
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 -
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 -
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 -
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 , Feb 5 2015, In: Nature. 518, 7537, p. 102-106 5 p.Research output: Contribution to journal › Article › peer-review
463 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 , Apr 4 2015, In: Circulation: Cardiovascular Genetics. 8, 2, p. 343-350 8 p.Research output: Contribution to journal › Article › peer-review
Open Access36 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
63 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 , Dec 1 2017, In: Nature Genetics. 49, 12, p. 1758-1766 9 p.Research output: Contribution to journal › Article › peer-review
295 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 Access5 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 -
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 Access53 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 -
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 , Mar 1 2017, In: European Journal of Preventive Cardiology. 24, 5, p. 492-504 13 p.Research output: Contribution to journal › Article › peer-review
Open Access20 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
384 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
13 Scopus citations -
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
FinnGen, Dec 2022, In: Nature communications. 13, 1, 1644.Research output: Contribution to journal › Article › peer-review
Open Access2 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 -
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 -
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 Access60 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 -
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 -
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 Access4 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 -
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 Access100 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