Possible association between Zika virus infection and microcephaly—Brazil, 2015 L Schuler-Faccini MMWR. Morbidity and mortality weekly report 65, 2016 | 1464 | 2016 |
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ... The American Journal of Human Genetics 84 (5), 706-711, 2009 | 257 | 2009 |
The phenotypic spectrum of congenital Zika syndrome M Del Campo, IML Feitosa, EM Ribeiro, DDG Horovitz, ALS Pessoa, ... American Journal of Medical Genetics Part A 173 (4), 841-857, 2017 | 256 | 2017 |
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes A Splendore, EO Silva, LG Alonso, A Richieri‐Costa, N Alonso, A Rosa, ... Human Mutation 16 (4), 315-322, 2000 | 163 | 2000 |
Prenatal exposure to misoprostol and vascular disruption defects: a case‐control study FR Vargas, L Schuler‐Faccini, D Brunoni, C Kim, VFA Meloni, ... American journal of medical genetics 95 (4), 302-306, 2000 | 161 | 2000 |
Thalidomide, a current teratogen in South America EE Castilla, P Ashton‐Prolla, E Barreda‐Mejia, D Brunoni, DP Cavalcanti, ... Teratology 54 (6), 273-277, 1996 | 151 | 1996 |
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ... The American Journal of Human Genetics 92 (6), 927-934, 2013 | 135 | 2013 |
Brazilian Medical Genetics Society-Zika Embryopathy Task Force. 2016. Possible association between Zika virus infection and microcephaly—Brazil, 2015 L Schuler-Faccini, EM Ribeiro, IM Feitosa, DD Horovitz, DP Cavalcanti, ... MMWR Morb Mortal Wkly Rep 65 (3), 59-62, 2016 | 130 | 2016 |
Clinical epidemiology of skeletal dysplasias in South America CO Barbosa‐Buck, IM Orioli, M da Graça Dutra, J Lopez‐Camelo, ... American Journal of Medical Genetics Part A 158 (5), 1038-1045, 2012 | 104 | 2012 |
Identification of CANT1 mutations in Desbuquois dysplasia C Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ... The American Journal of Human Genetics 85 (5), 706-710, 2009 | 98 | 2009 |
Limb-reduction defects and chorion villus sampling P Mastroiacovo, DP Cavalcanti, G Monni, RM Ibba, R Lai, G Olla, A Cao, ... Lancet (London, England) 337 (8749), 1091-1092, 1991 | 98 | 1991 |
Rare genetic diseases: update on diagnosis, treatment and online resources RE Pogue, DP Cavalcanti, S Shanker, RV Andrade, LR Aguiar, ... Drug discovery today 23 (1), 187-195, 2018 | 90 | 2018 |
Limb anomalies following chorionic villus sampling: a registry based case‐control study P Mastroiacovo, LD Botto, DP Cavalcanti, F Lalatta, A Selicorni, AE Tozzi, ... American journal of medical genetics 44 (6), 856-864, 1992 | 84 | 1992 |
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum DP Cavalcanti, C Huber, KHLQ Sang, G Baujat, F Collins, AL Delezoide, ... Journal of medical genetics 48 (2), 88-92, 2011 | 80 | 2011 |
Early exposure to yellow fever vaccine during pregnancy DP Cavalcanti, MA Salomão, J Lopez‐Camelo, MA Pessoto, ... Tropical Medicine & International Health 12 (7), 833-837, 2007 | 80 | 2007 |
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases J El Hokayem, C Huber, A Couvé, J Aziza, G Baujat, R Bouvier, ... Journal of medical genetics 49 (4), 227-233, 2012 | 71 | 2012 |
Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly FS Jehee, D Johnson, LG Alonso, DP Cavalcanti, E de Sá Moreira, ... Clinical genetics 67 (6), 503-510, 2005 | 64 | 2005 |
Possível associação entre a infecção pelo vírus zika e a microcefalia—Brasil, 2015 L Schuler-Faccini, EM Ribeiro, IML Feitosa, DDG Horovitz, DP Cavalcanti, ... MMWR: morbidity and mortality weekly report, 2016 | 62 | 2016 |
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia C Huber, EA Faqeih, D Bartholdi, C Bole-Feysot, Z Borochowitz, ... The American Journal of Human Genetics 92 (1), 144-149, 2013 | 56 | 2013 |
Non‐immune hydrops fetalis: A prospective study of 53 cases CA Moreno, T Kanazawa, R Barini, ML Nomura, KC Andrade, CP Gomes, ... American Journal of Medical Genetics Part A 161 (12), 3078-3086, 2013 | 53 | 2013 |