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Research Outputs

  1. 2017
  2. The WPA-Lancet Psychiatry Commission on the Future of Psychiatry

    Bhugra, D., Tasman, A., Pathare, S., Priebe, S., Smith, S., Torous, J., Arbuckle, M. R., Langford, A., Alarcón, R. D., Chiu, H. F. K., First, M. B., Kay, J., Sunkel, C., Thapar, A., Udomratn, P., Baingana, F. K., Kestel, D., Ng, R. M. K., Patel, A., Picker, L. D. & 21 others, McKenzie, K. J., Moussaoui, D., Muijen, M., Bartlett, P., Davison, S., Exworthy, T., Loza, N., Rose, D., Torales, J., Brown, M., Christensen, H., Firth, J., Keshavan, M., Li, A., Onnela, J-P., Wykes, T., Elkholy, H., Kalra, G., Lovett, K. F., Travis, M. J. & Ventriglio, A., Oct 2017, In : The Lancet Psychiatry. 4, 10, p. 775-818 44 p.

    Research output: Contribution to journalArticle

  3. Revealing the inner workings of organoids

    Dias, C. & Guillemot, F., 15 May 2017, In : The EMBO journal. 36, p. 1299-1301

    Research output: Contribution to journalReview article

  4. Tradução e adaptação transcultural do questionário de função sexual (SFQ) para o Português do Brasil

    Lapa, C. D. O., Rocha, G. P., Reis Marques, T., Howes, O., Smith, S., Monteiro, R. T., Zorzetti, R. & Spanemberg, L., Apr 2017, In : Trends in Psychiatry and Psychotherapy. 39, 2, p. 110-115 6 p.

    Research output: Contribution to journalArticle

  5. Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

    Larder, R., Sim, M. F. M., Gulati, P., Antrobus, R., Tung, Y. C. L., Rimmington, D., Ayuso, E., Polex-Wolf, J., Lam, B. Y. H., Dias, C., Logan, D. W., Virtue, S., Bosch, F., Yeo, G. S. H., Saudek, V., O'Rahilly, S. & Coll, A. P., 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 25, p. 9421 9426 p.

    Research output: Contribution to journalArticle

  6. 2016
  7. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E. V., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Deriziotis, P., Santos, R. F., Lee, S-C., Faivre, L., Kleefstra, T., Liu, P. & 4 others, Hurles, M. E., DDD Study, Fisher, S. E. & Logan, D. W., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 253-274 22 p.

    Research output: Contribution to journalArticle

  8. Clinical correlates of vitamin D deficiency in established psychosis

    Lally, J., Gardner-Sood, P., Firdosi, M., Iyegbe, C., Stubbs, B., Greenwood, K., Murray, R., Smith, S., Howes, O. & Gaughran, F., 2016, In : BMC Psychiatry. 16, p. 1-9 76.

    Research output: Contribution to journalArticle

  9. 2015
  10. Reasons for cannabis use in first-episode psychosis: Does strength of endorsement change over 12 months?

    Kolliakou, A., Castle, D., Sallis, H., Joseph, C., O'Connor, J., Wiffen, B., Gayer-Anderson, C., McQueen, G., Taylor, H., Bonaccorso, S., Gaughran, F., Smith, S., Greenwood, K., Murray, R. M., Di Forti, M., Atakan, Z. & Ismail, K., Jan 2015, In : European Psychiatry. 30, 1, p. 152-159 8 p.

    Research output: Contribution to journalArticle

  11. 2014
  12. Association of tardive dyskinesia with variation in CYP2D6: Is there a role for active metabolites?

    Koola, M. M., Tsapakis, E. M., Wright, P., Smith, S., Kerwin, R. W., Nugent, K. L. & Aitchison, K. J., Jul 2014, In : Journal of Psychopharmacology. 28, 7, p. 665-670 6 p.

    Research output: Contribution to journalArticle

  13. Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders

    Dias, C., Rupps, R., Millar, B., Choi, K., Marra, M., Demos, M., Kratz, L. E. & Boerkoel, C. F., 25 Jun 2014, In : Orphanet Journal of Rare Diseases. 9, 1, 94.

    Research output: Contribution to journalArticle

  14. 2013
  15. Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

    David, D., Marques, B., Ferreira, C., Araújo, C., Vieira, L., Soares, G., Dias, C. & Pinto, M., 1 Nov 2013, In : Human Genetics. 132, 11, p. 1287-1299 13 p.

    Research output: Contribution to journalArticle

  16. Novel mutations in FA2H-associated neurodegeneration: An underrecognized condition?

    Rupps, R., Hukin, J., Balicki, M., Mercimek-Mahmutoglu, S., Rolfs, A. & Dias, C., 1 Nov 2013, In : Journal of Child Neurology. 28, 11, p. 1500-1504 5 p.

    Research output: Contribution to journalArticle

  17. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

    Dias, C., McDonald, A., Sincan, M., Rupps, R., Markello, T., Salvarinova, R., Santos, R. F., Menghrajani, K., Ahaghotu, C., Sutherland, D. P., Fortuno, E. S., Kollmann, T. R., Demos, M., Friedman, J. M., Speert, D. P., Gahl, W. A. & Boerkoel, C. F., 1 Nov 2013, In : European Journal of Human Genetics. 21, 11, p. 1232-1239 8 p.

    Research output: Contribution to journalArticle

  18. 2012
  19. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Dias, C., Sincan, M., Cherukuri, P. F., Rupps, R., Huang, Y., Briemberg, H., Selby, K., Mullikin, J. C., Markello, T. C., Adams, D. R., Gahl, W. A. & Boerkoel, C. F., 1 Apr 2012, In : Human Mutation. 33, 4, p. 614-626 13 p.

    Research output: Contribution to journalArticle

  20. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

    Barbosa, M., Lopes, A., Mota, C., Martins, E., Oliveira, J., Alves, S., de Bonis, P., do Céu Mota, M., Dias, C., Rodrigues-Santos, P., Fortuna, A. M., Quelhas, D., Lacerda, L., Bisceglia, L. & Cardoso, M. L., 1 Jan 2012, In : Clinical Genetics. 81, 1, p. 47-55 9 p.

    Research output: Contribution to journalArticle

  21. 2011
  22. Schizophrenia as Segmental Progeria

    Papanastasiou, E., Gaughran, F. P. & Smith, S., 1 Nov 2011, In : Journal of the Royal Society of Medicine. 104, 11, p. 475-484 10 p.

    Research output: Contribution to journalArticle

  23. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Callewaert, B., Renard, M., Hucthagowder, V., Albrecht, B., Hausser, I., Blair, E., Dias, C., Albino, A., Wachi, H., Sato, F., Mecham, R. P., Loeys, B., Coucke, P. J., De Paepe, A. & Urban, Z., 1 Apr 2011, In : Human Mutation. 32, 4, p. 445-455 11 p.

    Research output: Contribution to journalArticle

  24. 2010
  25. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

    Oliveira, J., Dias, C., Redeker, E., Costa, E., Silva, J., Reis Lima, M., Den Dunnen, J. T. & Santos, R., 1 Nov 2010, In : Human Mutation. 31, 11, p. 1216-1222 7 p.

    Research output: Contribution to journalArticle

  26. Gender differences in antipsychotic prescribing

    Smith, S., Oct 2010, In : International Review of Psychiatry. 22, 5, p. 472 - 484 13 p.

    Research output: Contribution to journalArticle

  27. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth

    Dias, C., Basto, J., Pinho, O., Barbêdo, C., Mártins, M., Bornholdt, D., Fortuna, A., Grzeschik, K. H. & Lima, M., 1 Aug 2010, In : Fetal and Pediatric Pathology. 29, 5, p. 305-313 9 p.

    Research output: Contribution to journalArticle

  28. Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51

    Santos, R., Oliveira, J., Vieira, E., Coelho, T., Carneiro, A. L., Evangelista, T., Dias, C., Fortuna, A., Geraldo, A., Negro, L., Guimares, A. & Bronze-Da-Rocha, E., 1 Aug 2010, In : Journal of Human Genetics. 55, 8, p. 546-549 4 p.

    Research output: Contribution to journalArticle

  29. Emergency readmissions Non-clinical bed management strategies in psychiatry

    Smith, S. M. & Herlihy, D., 2010, In : BMJ. 341, p. c3889 c3889.

    Research output: Contribution to journalLetter

  30. 2009
  31. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

    Dias, C., Cairns, R. & Patel, M., 1 Jan 2009, In : Clinical Dysmorphology. 18, 1, p. 25-29 5 p.

    Research output: Contribution to journalArticle

  32. 2008
  33. Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

    Carrilho, I., Santos, M., Guimarães, A., Teixeira, J., Chorão, R., Martins, M., Dias, C., Gregory, A., Westaway, S., Nguyen, T., Hayflick, S. & Barbot, C., 1 Nov 2008, In : European Journal of Paediatric Neurology. 12, 6, p. 491-500 10 p.

    Research output: Contribution to journalArticle

  34. Neurodegeneration associated with genetic defects in phospholipase A2

    Gregory, A., Westaway, S. K., Holm, I. E., Kotzbauer, P. T., Hogarth, P., Sonek, S., Coryell, J. C., Nguyen, T. M., Nardocci, N., Zorzi, G., Rodriguez, D., Desguerre, I., Bertini, E., Simonati, A., Levinson, B., Dias, C., Barbot, C., Carrilho, I., Santos, M., Malik, I. & 2 others, Gitschier, J. & Hayflick, S. J., 28 Oct 2008, In : Neurology. 71, 18, p. 1402-1409 8 p.

    Research output: Contribution to journalArticle

  35. Buccal midazolam for agitation on psychiatric intensive care wards

    Taylor, D., Okocha, C., Paton, C., Smith, S. & Connolly, A., 2008, In : International Journal of Psychiatry in Clinical Practice. 12, 4, p. 309-11 3 p.

    Research output: Contribution to journalArticle

  36. 2007
  37. Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria

    Dias, C., Santos, M., Ribeiro, A., Carrilho, I., Lima, M. R., Barbot, C. & Chorão, R., 1 May 2007, In : Sinapse. 7, 1, p. 10-17 8 p.

    Research output: Contribution to journalArticle

  38. 2006
  39. 2005
  40. 2004
  41. Comment on hyperprolactinaemia and antipsychotic therapy in schizophrenia

    Howes, O. D., Smith, S. & Aitchison, K. J., Oct 2004, In : Current Medical Research and Opinion. 20, 10, p. 1649 - 1649 1 p.

    Research output: Contribution to journalArticle

  42. Effects of long-term prolactin-raising antipsychotic medication on bone mineral density in patients with schizophrenia

    Meaney, A. M., Smith, S., Howes, O. D., O'Brien, M., Murray, R. M. & O'keane, V., Jun 2004, In : British Journal of Psychiatry. 184, 6, p. 503 - 508 6 p.

    Research output: Contribution to journalArticle

  43. Alendronic acid for antipsychotic-related osteopenia

    Howes, O. & Smith, S., Apr 2004, In : The American Journal of Psychiatry. 161, 4, 756.

    Research output: Contribution to journalArticle

  44. A framework for detailed objective comparison of non-rigid registration algorithms in neuroimaging

    Barillot, C. (ed.), Haynor, D. R. (ed.), Hellier, P. (ed.), Crum, W., Rueckert, D., Jenkinson, M., Kennedy, D. & Smith, S. M., 2004, LECTURE NOTES IN COMPUTER SCIENCE. BERLIN: Springer, p. 679 - 686 8 p. (LECTURE NOTES IN COMPUTER SCIENCE).

    Research output: Chapter in Book/Report/Conference proceedingConference paper

  45. DEMQOL - Evaluation of a new system for measuring quality of life in people with dementia: Validity, reliability and use in regular practice

    Banerjee, S., Smith, S., Lamping, D., Foley, B., Smith, P. & Murray, J., 2004, In : Neurobiology of Aging. 25, p. S321 - S321

    Research output: Contribution to journalMeeting abstract

  46. Physical health in patients with severe mental illness

    Smith, S., Peacock, G. & Ohlsen, R., 2004, In : Journal of Psychopharmacology. 18, 3, p. A58 - A58

    Research output: Contribution to journalMeeting abstract

  47. Sexual dysfunction and antipsychotic drugs

    Smith, S., 2004, In : Journal of Psychopharmacology. 18, 3, p. A5 - A5

    Research output: Contribution to journalMeeting abstract

  48. The well being support programme: Basic nutritional advice in patients with Serious Mental Illness (SMI)

    Ohlsen, R. I., Peacock, G. & Smith, S., 2004, In : Journal of Psychopharmacology. 18, 3, p. A59 - A59

    Research output: Contribution to journalMeeting abstract

  49. 2003
  50. The creation of inter-ethnic images for studies in applied psychology

    Vanezis, M., Vanezis, P., Minnis, H., McMillan, A., Gillies, M. & Smith, S. E., Oct 2003, In : Medicine, Science and the Law. 43, 4, p. 301 - 306 6 p.

    Research output: Contribution to journalArticle

  51. Non-invasive mapping of connections between human thalamus and cortex using diffusion imaging

    Behrens, T. E. J., Johansen-Berg, H., Woolrich, M. W., Smith, S. M., Wheeler-Kingshott, C. A. M., Bulby, P. A., Barker, G. J., Sillery, E. L., Sheehan, K., Ciccarelli, O., Thompson, A. J., Brady, J. M. & Matthews, P. M., 1 Jun 2003, In : Nature Neuroscience. 6, 7, p. 750 - 757 8 p.

    Research output: Contribution to journalArticle

  52. An evidence and consensus based guideline for the management of a child after a seizure

    Armon, K., Stephenson, T., MacFaul, R., Hemingway, P., Werneke, U. & Smith, S., Jan 2003, In : EMERGENCY MEDICINE JOURNAL. 20, 1, p. 13 - 20 8 p.

    Research output: Contribution to journalArticle

  53. Are antipsychotics associated with low bone mineral density?

    Howes, O., Simpson, L., Meaney, A., O'Keane, V., Murray, R. & Smith, S., 2003, In : Journal of Psychopharmacology. 17, 3, p. A53 - A53

    Research output: Contribution to journalMeeting abstract

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