| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2316 | 2010 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1650 | 2007 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 719 | 2010 |
| Individual common variants exert weak effects on the risk for autism spectrum disorders R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ... Human molecular genetics 21 (21), 4781-4792, 2012 | 445 | 2012 |
| A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah, R Anney, ... Human genetics 131, 565-579, 2012 | 229 | 2012 |
| Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels AM Coutinho, I Sousa, M Martins, C Correia, T Morgadinho, C Bento, ... Human genetics 121, 243-256, 2007 | 191 | 2007 |
| Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism CT Correia, AM Coutinho, AF Sequeira, IG Sousa, L Lourenco Venda, ... Genes, Brain and behavior 9 (7), 841-848, 2010 | 168 | 2010 |
| High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility E Maestrini, AT Pagnamenta, JA Lamb, E Bacchelli, NH Sykes, I Sousa, ... Molecular psychiatry 15 (9), 954-968, 2010 | 164 | 2010 |
| Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behcet's disease susceptibility M Takeuchi, N Mizuki, A Meguro, MJ Ombrello, Y Kirino, C Satorius, J Le, ... Nature genetics 49 (3), 438-443, 2017 | 150 | 2017 |
| Linkage and candidate gene studies of autism spectrum disorders in European populations R Holt, G Barnby, E Maestrini, E Bacchelli, D Brocklebank, I Sousa, ... European Journal of Human Genetics 18 (9), 1013-1019, 2010 | 108 | 2010 |
| MET and autism susceptibility: family and case–control studies I Sousa, TG Clark, C Toma, K Kobayashi, M Choma, R Holt, NH Sykes, ... European Journal of Human Genetics 17 (6), 749-758, 2009 | 106 | 2009 |
| FOXE1 polymorphisms are associated with familial and sporadic nonmedullary thyroid cancer susceptibility RA Tomaz, I Sousa, JG Silva, C Santos, MR Teixeira, V Leite, BM Cavaco Clinical endocrinology 77 (6), 926-933, 2012 | 84 | 2012 |
| FUT2: filling the gap between genes and environment in Behçet's disease? JM Xavier, F Shahram, I Sousa, F Davatchi, M Matos, BS Abdollahi, ... Annals of the rheumatic diseases 74 (3), 618-624, 2015 | 78 | 2015 |
| Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection NH Sykes, C Toma, N Wilson, EV Volpi, I Sousa, AT Pagnamenta, ... European Journal of Human Genetics 17 (10), 1347-1353, 2009 | 77 | 2009 |
| Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry I Sousa, TG Clark, R Holt, AT Pagnamenta, EJ Mulder, RB Minderaa, ... Molecular autism 1, 1-14, 2010 | 75 | 2010 |
| Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations C Toma, M Rossi, I Sousa, F Blasi, E Bacchelli, R Alen, R Vanhala, ... Molecular psychiatry 12 (11), 977-979, 2007 | 58 | 2007 |
| Brief Report: Association of CCR1, KLRC4, IL12A–AS1, STAT4, and ERAP1 With Behçet's Disease in Iranians I Sousa, F Shahram, D Francisco, F Davatchi, BS Abdollahi, ... Arthritis & Rheumatology 67 (10), 2742-2748, 2015 | 48 | 2015 |
| Researching the autism spectrum: Contemporary perspectives I Roth, P Rezaie Cambridge University Press, 2011 | 39 | 2011 |
| Genetic variants underlying risk of intracranial aneurysms: insights from a GWAS in Portugal P Abrantes, MM Santos, I Sousa, JM Xavier, V Francisco, T Krug, J Sobral, ... PLoS One 10 (7), e0133422, 2015 | 25 | 2015 |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders CT Correia, IC Conceição, B Oliveira, J Coelho, I Sousa, AF Sequeira, ... Molecular autism 5, 1-14, 2014 | 20 | 2014 |
