| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 402 | 2015 |
| 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 |
| Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism AM Coutinho, G Oliveira, T Morgadinho, C Fesel, TR Macedo, C Bento, ... Molecular psychiatry 9 (3), 264-271, 2004 | 175 | 2004 |
| Genetic basis of congenital erythrocytosis: mutation update and online databases C Bento, MJ Percy, B Gardie, TM Maia, R van Wijk, S Perrotta, ... Human mutation 35 (1), 15-26, 2014 | 155 | 2014 |
| Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference S Lobitz, P Telfer, E Cela, B Allaf, M Angastiniotis, C Backman Johansson, ... British journal of haematology 183 (4), 648-660, 2018 | 115 | 2018 |
| Autoantibody repertoires to brain tissue in autism nuclear families SC Silva, C Correia, C Fesel, M Barreto, AM Coutinho, C Marques, ... Journal of neuroimmunology 152 (1-2), 176-182, 2004 | 95 | 2004 |
| Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease M Lenglet, F Robriquet, K Schwarz, C Camps, A Couturier, D Hoogewijs, ... Blood, The Journal of the American Society of Hematology 132 (5), 469-483, 2018 | 94 | 2018 |
| Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations C Camps, N Petousi, C Bento, H Cario, RR Copley, MF McMullin, ... haematologica 101 (11), 1306, 2016 | 91 | 2016 |
| Perfectionism and eating behaviour in Portuguese adolescents C Bento, AT Pereira, B Maia, M Marques, MJ Soares, S Bos, J Valente, ... European Eating Disorders Review 18 (4), 328-337, 2010 | 85 | 2010 |
| Intraoperative transfusion practices in Europe J Meier, D Filipescu, S Kozek-Langenecker, J Llau Pitarch, S Mallett, ... BJA: British Journal of Anaesthesia 116 (2), 255-261, 2016 | 73 | 2016 |
| MECP2 coding sequence and 3′ UTR variation in 172 unrelated autistic patients AM Coutinho, G Oliveira, C Katz, J Feng, J Yan, C Yang, C Marques, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007 | 70 | 2007 |
| Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene (s)?) C Bento, H Almeida, TM Maia, L Relvas, AC Oliveira, C Rossi, F Girodon, ... European journal of haematology 91 (4), 361-368, 2013 | 63 | 2013 |
| Genetic basis of congenital erythrocytosis C Bento International Journal of Laboratory Hematology 40, 62-67, 2018 | 52 | 2018 |
| The role of PHD2 mutations in the pathogenesis of erythrocytosis B Gardie, MJ Percy, D Hoogewijs, R Chowdhury, C Bento, PR Arsenault, ... Hypoxia, 71-90, 2014 | 51 | 2014 |
| Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next‐generation sequencing R Del Orbe Barreto, B Arrizabalaga, AB De la Hoz, Á García‐Orad, ... International journal of laboratory hematology 38 (6), 629-638, 2016 | 43 | 2016 |
| Erythrocytosis in children and adolescents—classification, characterization, and consensus recommendations for the diagnostic approach H Cario, M Frances McMullin, C Bento, D Pospisilova, MJ Percy, ... Pediatric blood & cancer 60 (11), 1734-1738, 2013 | 41 | 2013 |
| JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients M Coucelo, G Caetano, T Sevivas, S Almeida Santos, T Fidalgo, C Bento, ... International journal of hematology 99, 32-40, 2014 | 39 | 2014 |
| Erythrocytosis associated with a novel missense mutation in the BPGM gene N Petousi, RR Copley, TRJ Lappin, SE Haggan, CM Bento, H Cario, ... Haematologica 99 (10), e201, 2014 | 36 | 2014 |
| Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin C Pereira, L Relvas, C Bento, A Abade, ML Ribeiro, L Manco Blood Cells, Molecules, and Diseases 54 (4), 315-320, 2015 | 30 | 2015 |
| Evolutionary Constraints in the β-Globin Cluster: The Signature of Purifying Selection at the δ-Globin (HBD) Locus and Its Role in Developmental Gene Regulation A Moleirinho, S Seixas, AM Lopes, C Bento, MJ Prata, A Amorim Genome biology and evolution 5 (3), 559-571, 2013 | 29 | 2013 |
