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Renan Martin
Renan Martin
Johns Hopkins School of Medicine
Verified email at jhmi.edu
Title
Cited by
Cited by
Year
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
572018
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
452022
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
452011
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
272007
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
252021
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
242017
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
222018
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
212021
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
212016
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
202022
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
182019
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
172020
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
172019
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
162022
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
162013
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
152020
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
142017
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
132008
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
122019
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
122009
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Articles 1–20