| Relative frequency of inherited retinal dystrophies in Brazil FL Motta, RP Martin, R Filippelli-Silva, MV Salles, JMF Sallum Scientific reports 8 (1), 15939, 2018 | 59 | 2018 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 46 | 2022 |
| Angiotensin II Binding to Angiotensin I–Converting Enzyme Triggers Calcium Signaling PB Guimaraes, EC Alvarenga, PD Siqueira, EJ Paredes-Gamero, ... Hypertension 57 (5), 965-972, 2011 | 45 | 2011 |
| Functional expression of kinin B1 and B2 receptors in mouse abdominal aorta SA Felipe, ES Rodrigues, RP Martin, ACM Paiva, JB Pesquero, ... Brazilian journal of medical and biological research 40, 649-655, 2007 | 27 | 2007 |
| PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data E Wohler, R Martin, S Griffith, ES Rodrigues, C Antonescu, JE Posey, ... Orphanet journal of rare diseases 16, 1-10, 2021 | 26 | 2021 |
| IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease M Cananzi, E Wohler, A Marzollo, D Colavito, J You, H Jing, S Bresolin, ... Human Genetics 140 (9), 1299-1312, 2021 | 25 | 2021 |
| The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes FL Motta, MV Salles, KA Costa, R Filippelli-Silva, RP Martin, JMF Sallum Scientific reports 7 (1), 8654, 2017 | 25 | 2017 |
| Variants in the ABCA4 gene in a Brazilian population with Stargardt disease MV Salles, FL Motta, R Martin, R Filippelli-Silva, ED da Silva, P Varela, ... Molecular vision 24, 546, 2018 | 22 | 2018 |
| Variant‐level matching for diagnosis and discovery: Challenges and opportunities ES Rodrigues, S Griffith, R Martin, C Antonescu, JE Posey, ... Human mutation 43 (6), 782-790, 2022 | 21 | 2022 |
| New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema N Cagini, CL Veronez, RN Constantino-Silva, M Buzolin, RP Martin, ... Biological chemistry 397 (4), 337-344, 2016 | 21 | 2016 |
| Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy FL Motta, RP Martin, FBO Porto, ES Wohler, RG Resende, CP Gomes, ... Genes 11 (1), 24, 2019 | 18 | 2019 |
| The impact of GeneMatcher on international data sharing and collaboration A Hamosh, E Wohler, R Martin, S Griffith, ES Rodrigues, C Antonescu, ... Human mutation 43 (6), 668-673, 2022 | 17 | 2022 |
| Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients P Varela, G Mastroianni Kirsztajn, FL Motta, RP Martin, LT Turaça, ... Orphanet journal of rare diseases 15, 1-12, 2020 | 17 | 2020 |
| Genetic variation of kallikrein-kinin system and related genes in patients with hereditary angioedema CL Veronez, A Aabom, RP Martin, R Filippelli-Silva, RF Gonçalves, ... Frontiers in medicine 6, 28, 2019 | 17 | 2019 |
| KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations N Al Dhaheri, N Wu, S Zhao, Z Wu, RD Blank, J Zhang, C Raggio, ... American Journal of Medical Genetics Part A 182 (7), 1664-1672, 2020 | 16 | 2020 |
| Evidence that kinin B2 receptor expression is upregulated by endothelial overexpression of B1 receptors ES Rodrigues, RF Silva, RP Martin, SM Oliveira, CR Nakaie, RA Sabatini, ... Peptides 42, 1-7, 2013 | 16 | 2013 |
| Novel complex ABCA4 alleles in brazilian patients with stargardt disease: genotype–phenotype correlation MV Salles, FL Motta, ED da Silva, P Varela, KA Costa, R Filippelli-Silva, ... Investigative Ophthalmology & Visual Science 58 (13), 5723-5730, 2017 | 14 | 2017 |
| Functional assessment of angiotensin II and bradykinin analogues containing the paramagnetic amino acid TOAC EL Santos, K de Picoli Souza, RA Sabatini, RP Martin, L Fernandes, ... International immunopharmacology 8 (2), 293-299, 2008 | 13 | 2008 |
| Distinct roles of angiotensin receptors in autonomic dysreflexia following high-level spinal cord injury in mice A Järve, M Todiras, X Lian, R Filippelli-Silva, F Qadri, RP Martin, ... Experimental Neurology 311, 173-181, 2019 | 12 | 2019 |
| Cross talk between kinin and angiotensin II receptors in mouse abdominal aorta ES Rodrigues, RP Martin, SA Felipe, M Bader, SM Oliveira, SI Shimuta Walter de Gruyter 390 (9), 907-913, 2009 | 12 | 2009 |
