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20072024

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  • 2012

    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

    Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., Bailey, A. J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bolton, P. F., Bourgeron, T., Brennan, S., Cali, P., Correia, C., & 106 othersCorsello, C., Coutanche, M., Dawson, G., De Jonge, M., Delorme, R., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B. A., Folstein, S. E., Foley, S., Fombonne, E., Freitag, C. M., Gilbert, J., Gillberg, C., Glessner, J. T., Green, J., Guter, S. J., Hakonarson, H., Holt, R., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S. M., Kolevzon, A., Lamb, J. A., Leboyer, M., Couteur, A. L., Leventhal, B. L., Lord, C., Lund, S. C., Maestrini, E., Mantoulan, C., Marshall, C. R., McConachie, H., McDougle, C. J., McGrath, J., McMahon, W. M., Merikangas, A., Miller, J., Minopoli, F., Mirza, G. K., Munson, J., Nelson, S. F., Nygren, G., Oliveira, G., Pagnamenta, A. T., Papanikolaou, K., Parr, J. R., Parrini, B., Pickles, A., Pinto, D., Piven, J., Posey, D. J., Poustka, A., Poustka, F., Ragoussis, J., Roge, B., Rutter, M. L., Sequeira, A. F., Soorya, L., Sousa, I., Sykes, N., Stoppioni, V., Tancredi, R., Tauber, M., Thompson, A. P., Thomson, S., Tsiantis, J., Van Engeland, H., Vincent, J. B., Volkmar, F., Vorstman, J. A. S., Wallace, S., Wang, K., Wassink, T. H., White, K., Wing, K., Wittemeyer, K., Yaspan, B. L., Zwaigenbaum, L., Betancur, C., Buxbaum, J. D., Cantor, R. M., Cook, E. H., Coon, H., Cuccaro, M. L., Geschwind, D. H., Haines, J. L., Hallmayer, J., Monaco, A. P., Nurnberger, J. I., Pericak-Vance, M. A., Schellenberg, G. D., Scherer, S. W., Sutcliffe, J. S., Szatmari, P., Vieland, V. J., Wijsman, E. M., Green, A., Gill, M., Gallagher, L., Vicente, A. & Ennis, S., Apr 2012, In: Human Genetics. 131, 4, p. 565-579 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    159 Scopus citations
  • Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders

    Huerta, M., Bishop, S. L., Duncan, A., Hus, V. & Lord, C., Oct 1 2012, In: American Journal of Psychiatry. 169, 10, p. 1056-1064 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    236 Scopus citations
  • Common genetic variants, acting additively, are a major source of risk for autism

    Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., Grice, D. E., Ledbetter, D. H., Lord, C., Mane, S. M., Martin, C. L., Martin, D. M., Morrow, E. M., Walsh, C. A., Melhem, N. M., Chaste, P., & 5 othersSutcliffe, J. S., State, M. W., Cook, E. H., Roeder, K. & Devlin, B., 2012, In: Molecular Autism. 3, 1, 9.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    316 Scopus citations
  • Individual common variants exert weak effects on the risk for autism spectrum disorders

    Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., Brennan, S., Brian, J., Casey, J., Conroy, J., Correia, C., Corsello, C., Crawford, E. L., De jonge, M., Delorme, R., Duketis, E., & 117 othersDuque, F., Estes, A., Farrar, P., Fernandez, B. A., Folstein, S. E., Fombonne, E., Gilbert, J., Gillberg, C., Glessner, J. T., Green, A., Green, J., Guter, S. J., Heron, E. A., Holt, R., Howe, J. L., Hughes, G., Hus, V., Igliozzi, R., Jacob, S., Kenny, G. P., Kim, C., Kolevzon, A., Kustanovich, V., Lajonchere, C. M., Lamb, J. A., Law-Smith, M., Leboyer, M., Le couteur, A., Leventhal, B. L., Liu, X. Q., Lombard, F., Lord, C., Lotspeich, L., Lund, S. C., Magalhaes, T. R., Mantoulan, C., McDougle, C. J., Melhem, N. M., Merikangas, A., Minshew, N. J., Mirza, G. K., Munson, J., Noakes, C., Nygren, G., Papanikolaou, K., Pagnamenta, A. T., Parrini, B., Paton, T., Pickles, A., Posey, D. J., Poustka, F., Ragoussis, J., Regan, R., Roberts, W., Roeder, K., Roge, B., Rutter, M. L., Schlitt, S., Shah, N., Sheffield, V. C., Soorya, L., Sousa, I., Stoppioni, V., Sykes, N., Tancredi, R., Thompson, A. P., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J. B., Volkmar, F., Vorstman, J. A. S., Wallace, S., Wing, K., Wittemeyer, K., Wood, S., Zurawiecki, D., Zwaigenbaum, L., Bailey, A. J., Battaglia, A., Cantor, R. M., Coon, H., Cuccaro, M. L., Dawson, G., Ennis, S., Freitag, C. M., Geschwind, D. H., Haines, J. L., Klauck, S. M., Mcmahon, W. M., Maestrini, E., Miller, J., Monaco, A. P., Nelson, S. F., Nurnberger, J. I., Oliveira, G., Parr, J. R., Pericak-Vance, M. A., Piven, J., Schellenberg, G. D., Scherer, S. W., Vicente, A. M., Wassink, T. H., Wijsman, E. M., Betancur, C., Buxbaum, J. D., Cook, E. H., Gallagher, L., Gill, M., Hallmayer, J., Paterson, A. D., Sutcliffe, J. S., Szatmari, P., Vieland, V. J., Hakonarson, H. & Devlin, B., Nov 1 2012, In: Human molecular genetics. 21, 21, p. 4781-4792 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    289 Scopus citations
  • 2011

    Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

    Autism Genome Project, Oct 2011, In: European Journal of Human Genetics. 19, 10, p. 1082-1089 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    38 Scopus citations
  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., Mason, C. E., Bilguvar, K., Celestino-Soper, P. B. S., Choi, M., Crawford, E. L., Davis, L., Davis Wright, N. R., Dhodapkar, R. M., DiCola, M., DiLullo, N. M., & 47 othersFernandez, T. V., Fielding-Singh, V., Fishman, D. O., Frahm, S., Garagaloyan, R., Goh, G. S., Kammela, S., Klei, L., Lowe, J. K., Lund, S. C., McGrew, A. D., Meyer, K. A., Moffat, W. J., Murdoch, J. D., O'Roak, B. J., Ober, G. T., Pottenger, R. S., Raubeson, M. J., Song, Y., Wang, Q., Yaspan, B. L., Yu, T. W., Yurkiewicz, I. R., Beaudet, A. L., Cantor, R. M., Curland, M., Grice, D. E., Günel, M., Lifton, R. P., Mane, S. M., Martin, D. M., Shaw, C. A., Sheldon, M., Tischfield, J. A., Walsh, C. A., Morrow, E. M., Ledbetter, D. H., Fombonne, E., Lord, C., Martin, C. L., Brooks, A. I., Sutcliffe, J. S., Cook, E. H., Geschwind, D., Roeder, K., Devlin, B. & State, M. W., Jun 9 2011, In: Neuron. 70, 5, p. 863-885 23 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    991 Scopus citations
  • 2010

    A genome-wide scan for common alleles affecting risk for autism

    Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., Almeida, J., Bacchelli, E., Bailey, A. J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., & 146 othersBrennan, S., Brian, J., Carson, A. R., Casallo, G., Casey, J., Chu, S. H., Cochrane, L., Corsello, C., Crawford, E. L., Crossett, A., Dawson, G., de Jonge, M., Delorme, R., Drmic, I., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B. A., Folstein, S. E., Fombonne, E., Freitag, C. M., Gilbert, J., Gillberg, C., Glessner, J. T., Goldberg, J., Green, J., Guter, S. J., Hakonarson, H., Heron, E. A., Hill, M., Holt, R., Howe, J. L., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S. M., Kolevzon, A., Korvatska, O., Kustanovich, V., Lajonchere, C. M., Lamb, J. A., Laskawiec, M., Leboyer, M., Le Couteur, A., Leventhal, B. L., Lionel, A. C., Liu, X. Q., Lord, C., Lotspeich, L., Lund, S. C., Maestrini, E., Mahoney, W., Mantoulan, C., Marshall, C. R., McConachie, H., McDougle, C. J., McGrath, J., McMahon, W. M., Melhem, N. M., Merikangas, A., Migita, O., Minshew, N. J., Mirza, G. K., Munson, J., Nelson, S. F., Noakes, C., Noor, A., Nygren, G., Oliveira, G., Papanikolaou, K., Parr, J. R., Parrini, B., Paton, T., Pickles, A., Piven, J., Posey, D. J., Poustka, A., Poustka, F., Prasad, A., Ragoussis, J., Renshaw, K., Rickaby, J., Roberts, W., Roeder, K., Roge, B., Rutter, M. L., Bierut, L. J., Rice, J. P., Salt, J., Sansom, K., Sato, D., Segurado, R., Senman, L., Shah, N., Sheffield, V. C., Soorya, L., Sousa, I., Stoppioni, V., Strawbridge, C., Tancredi, R., Tansey, K., Thiruvahindrapduram, B., Thompson, A. P., Thomson, S., Tryfon, A., Tsiantis, J., van Engeland, H., Vincent, J. B., Volkmar, F., Wallace, S., Wang, K., Wang, Z., Wassink, T. H., Wing, K., Wittemeyer, K., Wood, S., Yaspan, B. L., Zurawiecki, D., Zwaigenbaum, L., Betancur, C., Buxbaum, J. D., Cantor, R. M., Cook, E. H., Coon, H., Cuccaro, M. L., Gallagher, L., Geschwind, D. H., Gill, M., Haines, J. L., Miller, J., Monaco, A. P., Nurnberger, J. I., Paterson, A. D., Pericak-Vance, M. A., Schellenberg, G. D., Scherer, S. W., Sutcliffe, J. S., Szatmari, P., Vicente, A. M., Vieland, V. J., Wijsman, E. M., Devlin, B., Ennis, S. & Hallmayer, J., Jul 27 2010, In: Human molecular genetics. 19, 20, p. 4072-4082 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    475 Scopus citations
  • Functional impact of global rare copy number variation in autism spectrum disorders

    Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Almeida, J., Bacchelli, E., Bader, G. D., Bailey, A. J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bölte, S., Bolton, P. F., & 157 othersBourgeron, T., Brennan, S., Brian, J., Bryson, S. E., Carson, A. R., Casallo, G., Casey, J., Chung, B. H. Y., Cochrane, L., Corsello, C., Crawford, E. L., Crossett, A., Cytrynbaum, C., Dawson, G., De Jonge, M., Delorme, R., Drmic, I., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B. A., Folstein, S. E., Fombonne, E., Freitag, C. M., Gilbert, J., Gillberg, C., Glessner, J. T., Goldberg, J., Green, A., Green, J., Guter, S. J., Hakonarson, H., Heron, E. A., Hill, M., Holt, R., Howe, J. L., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S. M., Kolevzon, A., Korvatska, O., Kustanovich, V., Lajonchere, C. M., Lamb, J. A., Laskawiec, M., Leboyer, M., Le Couteur, A., Leventhal, B. L., Lionel, A. C., Liu, X. Q., Lord, C., Lotspeich, L., Lund, S. C., Maestrini, E., Mahoney, W., Mantoulan, C., Marshall, C. R., McConachie, H., McDougle, C. J., McGrath, J., McMahon, W. M., Merikangas, A., Migita, O., Minshew, N. J., Mirza, G. K., Munson, J., Nelson, S. F., Noakes, C., Noor, A., Nygren, G., Oliveira, G., Papanikolaou, K., Parr, J. R., Parrini, B., Paton, T., Pickles, A., Pilorge, M., Piven, J., Ponting, C. P., Posey, D. J., Poustka, A., Poustka, F., Prasad, A., Ragoussis, J., Renshaw, K., Rickaby, J., Roberts, W., Roeder, K., Roge, B., Rutter, M. L., Bierut, L. J., Rice, J. P., Salt, J., Sansom, K., Sato, D., Segurado, R., Sequeira, A. F., Senman, L., Shah, N., Sheffield, V. C., Soorya, L., Sousa, I., Stein, O., Sykes, N., Stoppioni, V., Strawbridge, C., Tancredi, R., Tansey, K., Thiruvahindrapduram, B., Thompson, A. P., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J. B., Volkmar, F., Wallace, S., Wang, K., Wang, Z., Wassink, T. H., Webber, C., Weksberg, R., Wing, K., Wittemeyer, K., Wood, S., Wu, J., Yaspan, B. L., Zurawiecki, D., Zwaigenbaum, L., Buxbaum, J. D., Cantor, R. M., Cook, E. H., Coon, H., Cuccaro, M. L., Devlin, B., Ennis, S., Gallagher, L., Geschwind, D. H., Gill, M., Haines, J. L., Hallmayer, J., Miller, J., Monaco, A. P., Nurnberger, J. I., Paterson, A. D., Pericak-Vance, M. A., Schellenberg, G. D., Szatmari, P., Vicente, A. M., Vieland, V. J., Wijsman, E. M., Scherer, S. W., Sutcliffe, J. S. & Betancur, C., Jul 15 2010, In: Nature. 466, 7304, p. 368-372 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1591 Scopus citations
  • 2009

    A genome-wide linkage and association scan reveals novel loci for autism

    Weiss, L. A., Arking, D. E., Daly, M. J., Chakravarti, A., Brune, C. W., West, K., O'Connor, A., Hilton, G., Tomlinson, R. L., West, A. B., Cook, E. H., Green, T., Chang, S. C., Gabriel, S., Gates, C., Hanson, E. M., Kirby, A., Korn, J., Kuruvilla, F., McCarroll, S., & 169 othersMorrow, E. M., Neale, B., Purcell, S., Sasanfar, R., Sougnez, C., Stevens, C., Altshuler, D., Gusella, J., Santangelo, S. L., Sklar, P., Tanzi, R., Anney, R., Bailey, A. J., Baird, G., Battaglia, A., Berney, T., Betancur, C., Bölte, S., Bolton, P. F., Brian, J., Bryson, S. E., Buxbaum, J. D., Cabrito, I., Cai, G., Cantor, R. M., Coon, H., Conroy, J., Correia, C., Corsello, C., Crawford, E. L., Cuccaro, M. L., Dawson, G., De Jonge, M., Devlin, B., Duketis, E., Ennis, S., Estes, A., Farrar, P., Fombonne, E., Freitag, C. M., Gallagher, L., Geschwind, D. H., Gilbert, J., Gill, M., Gillberg, C., Goldberg, J., Green, A., Green, J., Guter, S. J., Haines, J. L., Hallmayer, J. F., Hus, V., Klauck, S. M., Korvatska, O., Lamb, J. A., Laskawiec, M., Leboyer, M., Le Couteur, A., Leventha, B. L., Liu, X. Q., Lord, C., Lotspeich, L. J., Maestrini, E., Magalhaes, T., Mahoney, W., Mantoulan, C., McConachie, H., McDougle, C. J., McMahon, W. M., Marshall, C. R., Miller, J., Minshew, N. J., Monaco, A. P., Munson, J., Nurnberger, J. I., Oliveira, G., Pagnamenta, A., Papanikolaou, K., Parr, J. R., Paterson, A. D., Pericak-Vance, M. A., Pickles, A., Pinto, D., Piven, J., Posey, D. J., Poustka, A., Poustka, F., Regan, R., Reichert, J., Renshaw, K., Roberts, W., Roge, B., Rutter, M. L., Salt, J., Schellenberg, G. D., Scherer, S. W., Sheffield, V., Sutcliffe, J. S., Szatmari, P., Tansey, K., Thompson, A. P., Tsiantis, J., Van Engeland, H., Vicente, A. M., Vieland, V. J., Volkmar, F., Wallace, S., Wassink, T. H., Wijsman, E. M., Wing, K., Wittemeyer, K., Yaspan, B. L., Zwaigenbaum, L., Yoo, S. Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Al-Saad, S., Hashmi, A., Ware, J., Joseph, R. M., LeClair, E., Partlow, J. N., Barry, B., Walsh, C. A., Pauls, D., Moilanen, I., Ebeling, H., Mattila, M. L., Kuusikko, S., Jussila, K., Ignatius, J., Tolouei, A., Ghadami, M., Rostami, M., Hosseinipour, A., Valujerdi, M., Andresen, K., Winkloski, B., Haddad, S., Kunkel, L., Kohane, Z., Tran, T., Won Kong, S., O'Neil, S. B., Hundley, R., Holm, I., Peters, H., Baroni, E., Cangialose, A., Jackson, L., Albers, L., Becker, R., Bridgemohan, C., Friedman, S., Munir, K., Nazir, R., Palfrey, J., Schonwald, A., Simmons, E., Rappaport, L. A., Gauthier, J., Mottron, L., Joober, R., Rouleau, G., Rehnstrom, K., Von Wendt, L. & Peltonen, L., Oct 8 2009, In: Nature. 461, 7265, p. 802-808 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    515 Scopus citations
  • The autism diagnostic observation schedule - Toddler module: A new module of a standardized diagnostic measure for autism spectrum disorders

    Luyster, R., Gotham, K., Guthrie, W., Coffing, M., Petrak, R., Pierce, K., Bishop, S., Esler, A., Hus, V., Oti, R., Richler, J., Risi, S. & Lord, C., Sep 2009, In: Journal of Autism and Developmental Disorders. 39, 9, p. 1305-1320 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    331 Scopus citations
  • 2008

    Fathers, mothers and marriages: What shapes adoption conversations in families with young adopted children?

    Freeark, K., Rosenblum, K. L., Hus, V. H. & Root, B. L., 2008, In: Adoption Quarterly. 11, 1, p. 1-23 23 p.

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations
  • 2007

    Between a ROC and a hard place: Decision making and making decisions about using the SCQ

    Corsello, C., Hus, V., Pickles, A., Risi, S., Cook, E. H., Leventhal, B. L. & Lord, C., Sep 2007, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 48, 9, p. 932-940 9 p.

    Research output: Contribution to journalArticlepeer-review

    245 Scopus citations
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., Vincent, J. B., Skaug, J. L., Thompson, A. P., Senman, L., Feuk, L., Qian, C., Bryson, S. E., Jones, M. B., Marshall, C. R., Scherer, S. W., Vieland, V. J., Bartlett, C., Mangin, L. V., Goedken, R., & 117 othersSegre, A., Pericak-Vance, M. A., Cuccaro, M. L., Gilbert, J. R., Wright, H. H., Abramson, R. K., Betancur, C., Bourgeron, T., Gillberg, C., Leboyer, M., Buxbaum, J. D., Davis, K. L., Hollander, E., Silverman, J. M., Hallmayer, J., Lotspeich, L., Sutcliffe, J. S., Haines, J. L., Folstein, S. E., Piven, J., Wassink, T. H., Sheffield, V., Geschwind, D. H., Bucan, M., Brown, W. T., Cantor, R. M., Constantino, J. N., Gilliam, T. C., Herbert, M., LaJonchere, C., Ledbetter, D. H., Lese-Martin, C., Miller, J., Nelson, S., Samango-Sprouse, C. A., Spence, S., State, M., Tanzi, R. E., Coon, H., Dawson, G., Devlin, B., Estes, A., Flodman, P., Klei, L., McMahon, W. M., Minshew, N., Munson, J., Korvatska, E., Rodier, P. M., Schellenberg, G. D., Smith, M., Spence, M. A., Stodgell, C., Tepper, P. G., Wijsman, E. M., Yu, C. E., Rogé, B., Mantoulan, C., Wittemeyer, K., Poustka, A., Felder, B., Klauck, S. M., Schuster, C., Poustka, F., Bölte, S., Feineis-Matthews, S., Herbrecht, E., Schmötzer, G., Tsiantis, J., Papanikolaou, K., Maestrini, E., Bacchelli, E., Blasi, F., Carone, S., Toma, C., Van Engeland, H., De Jonge, M., Kemner, C., Koop, F., Langemeijer, M., Hijimans, C., Staal, W. G., Baird, G., Bolton, P. F., Rutter, M. L., Weisblatt, E., Green, J., Aldred, C., Wilkinson, J. A., Pickles, A., Le Couteur, A., Berney, T., McConachie, H., Bailey, A. J., Francis, K., Honeyman, G., Hutchinson, A., Parr, J. R., Wallace, S., Monaco, A. P., Barnby, G., Kobayashi, K., Lamb, J. A., Sousa, I., Sykes, N., Cook, E. H., Guter, S. J., Leventhal, B. L., Salt, J., Lord, C., Corsello, C., Hus, V., Weeks, D. E., Volkmar, F., Tauber, M., Fombonne, E. & Shih, A., Mar 2007, In: Nature genetics. 39, 3, p. 319-328 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1157 Scopus citations
  • Using the Autism Diagnostic Interview-Revised to Increase Phenotypic Homogeneity in Genetic Studies of Autism

    Hus, V., Pickles, A., Cook, E. H., Risi, S. & Lord, C., Feb 15 2007, In: Biological Psychiatry. 61, 4, p. 438-448 11 p.

    Research output: Contribution to journalArticlepeer-review

    133 Scopus citations