Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort R Carapito, R Li, J Helms, C Carapito, S Gujja, V Rolli, R Guimaraes, ... Science translational medicine 14 (628), eabj7521, 2022 | 92 | 2022 |
miRNApath: a database of miRNAs, target genes and metabolic pathways AO Chiromatzo, TYK Oliveira, G Pereira, AY Costa, CAE Montesco, ... Genetics and Molecular Research, 859-865, 2007 | 58 | 2007 |
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis ND Linhares, MCM Freire, RG Cardenas, HB Pena, M Bahia, SDJ Pena European journal of medical genetics 57 (11-12), 643-648, 2014 | 44 | 2014 |
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients PP Couto, L Bastos-Rodrigues, H Schayek, FM Melo, RGC Lisboa, ... Carcinogenesis 38 (11), 1112-1118, 2017 | 25 | 2017 |
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG ND Linhares, MC Freire, RG Cardenas, M Bahia, E Puzenat, F Aubin, ... Genet Mol Res 13 (3), 6287-6292, 2014 | 23 | 2014 |
Highlights from the 1st ISCB latin american student council symposium 2014 RG Parra, FL Simonetti, MA Hasenahuer, GJ Olguin-Orellana, ... BMC bioinformatics 16, 1-4, 2015 | 20 | 2015 |
Mendel, MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders R GCCL Cardenas, N D. Linhares, R L. Ferreira, SDJ Pena PLoS Computational Biology 13 (6), e1005520, 2017 | 13 | 2017 |
Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma FM Melo, PP Couto, AE Bale, L Bastos-Rodrigues, FM Passos, ... Cancer Genetics 209 (6), 251-257, 2016 | 11 | 2016 |
Mendel, MD: A user-friendly online program for clinical exome analysis RGCDCL Cardenas, N Duarte Linhares, SD Junho Pena BMC Bioinformatics 16 (8), 1-2, 2015 | 8 | 2015 |
" Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused … ND Linhares, MCM Freire, RG Cardenas, HB Pena, M Bahia, SDJ Pena European journal of medical genetics 61 (2), 106, 2018 | 5 | 2018 |
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency ND Linhares, MCM Freire, RGCCL Cardenas, HB Pena, K Lachlan, ... Genetics and Molecular Biology 39, 349-357, 2016 | 5 | 2016 |
Metabarcoding accelerates species discovery and unravel great biodiversity of benthic invertebrates in marine sediments in Campos basin, Brazil. PeerJ Preprints 4: e2103v3 … M Schettini, C RGCCL, MAA Detoni, MF Rebelo | 4 | 2016 |
Ultra-fast joint-genotyping with SparkGOR H Guðbjartsson, H Þór Ísleifsson, B Ragnarsson, R Guimaraes, H Wu, ... bioRxiv, 2022.10. 25.513331, 2022 | 2 | 2022 |
Identification of driver genes for severe forms of COVID-19 in a deeply phenotyped young patient cohort R Carapito, R Li, J Helms, C Carapito, S Gujja, V Rolli, R Guimaraes, ... medRxiv, 2021.06. 21.21257822, 2021 | 2 | 2021 |
Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome PG de Azevedo, MLR Guimarães, ALB Albuquerque, RB Alves, ... Frontiers in Genetics 14, 1137817, 2023 | 1 | 2023 |
Single nucleotide variants in a family of monozygotic twins discordant for the phenotype congenital megaureter: A genomic analysis AC Soares dos Santos Junior, LB Rodrigues, RG Cardenas, PGP Couto, ... The Open Urology & Nephrology Journal 10 (1), 2017 | 1 | 2017 |
Identification of driver genes for severe forms of COVID-19 in a deeply phenotyped young patient cohort (preprint) R Carapito, R Li, J Helms, C Carapito, S Gujja, V Rolli, R Guimaraes, ... | | 2021 |
Use of whole exome technique to search for genetic variants in megaureter ACS Santos Jr, EA Oliveira, L Bastos-Rodrigues, R Cardenas, SE Silva, ... PEDIATRIC NEPHROLOGY 31 (10), 1794-1794, 2016 | | 2016 |
Rastreamento de variantes genéticas em neoplasias mieloides familiares por sequenciamento do exoma MA Ferreira Filho [sn], 2016 | | 2016 |
Avaliação do Exoma no megaureter ACS dos Santos Junior Universidade Federal de Minas Gerais, 2015 | | 2015 |