Intratumoral genetic heterogeneity in rectal cancer: are single biopsies representative of the entirety of the tumor? F Bettoni, C Masotti, A Habr-Gama, BR Correa, J Gama-Rodrigues, ... Annals of Surgery 265 (1), e4-e6, 2017 | 62 | 2017 |
Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls DF Bueno, DY Sunaga, GS Kobayashi, M Aguena, CE Raposo-Amaral, ... Stem cell reviews and reports 7, 446-457, 2011 | 60 | 2011 |
Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil LA Brito, LMR Paranaiba, CFS Bassi, C Masotti, C Malcher, D Schlesinger, ... Birth Defects Research Part A: Clinical and Molecular Teratology 94 (6), 464-468, 2012 | 54 | 2012 |
TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature A Splendore, RD Fanganiello, C Masotti, LSC Morganti, ... Human mutation 25 (5), 429-434, 2005 | 52 | 2005 |
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population LA Brito, CFS Bassi, C Masotti, C Malcher, KM Rocha, D Schlesinger, ... American Journal of Medical Genetics Part A 158 (9), 2170-2175, 2012 | 50 | 2012 |
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity C Masotti, KG Oliveira, F Poerner, A Splendore, J Souza, RS Freitas, ... European journal of human genetics 16 (2), 145-152, 2008 | 44 | 2008 |
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction C Masotti, LM Armelin-Correa, A Splendore, CJ Lin, A Barbosa, ... Gene 359, 44-52, 2005 | 43 | 2005 |
Understanding human DNA variants affecting pre-mRNA splicing in the NGS era LG Dufner-Almeida, RT do Carmo, C Masotti, LA Haddad Advances in genetics 103, 39-90, 2019 | 34 | 2019 |
Targeting MAGE-C1/CT7 expression increases cell sensitivity to the proteasome inhibitor bortezomib in multiple myeloma cell lines F Carvalho, ET Costa, AA Camargo, JC Gregorio, C Masotti, ... PloS one 6 (11), e27707, 2011 | 31 | 2011 |
The effects of neoadjuvant chemoradiation in locally advanced rectal cancer—the impact in intratumoral heterogeneity F Bettoni, C Masotti, BR Corrêa, E Donnard, FF Dos Santos, ... Frontiers in Oncology 9, 974, 2019 | 27 | 2019 |
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients C Masotti, CC Ornelas, A Splendore-Gordonos, R Moura, TM Félix, ... BMC Medical Genetics 10, 1-7, 2009 | 26 | 2009 |
HLApers: HLA typing and quantification of expression with personalized index VRC Aguiar, C Masotti, AA Camargo, D Meyer Bioinformatics for Cancer Immunotherapy: Methods and Protocols, 101-112, 2020 | 13 | 2020 |
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach C Masotti, LA Brito, AC Nica, KU Ludwig, K Nunes, CP Savastano, ... Journal of dental research 97 (1), 33-40, 2018 | 13 | 2018 |
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome RL Sandoval, C Masotti, MP de Macedo, MFSA Ribeiro, ACR Leite, ... JCO Global Oncology 7, 1141-1150, 2021 | 12 | 2021 |
Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags DO Vidal, JES de Souza, LC Pires, C Masotti, ACM Salim, MCF Costa, ... Genome 54 (2), 120-127, 2011 | 12 | 2011 |
Genomic biomarkers and underlying mechanism of benefit from BCG immunotherapy in non-muscle invasive bladder cancer DA Bastos, RL Mattedi, R Barreiro, FF dos Santos, V Buzatto, C Masotti, ... Bladder Cancer 6 (2), 171-186, 2020 | 8 | 2020 |
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements VLR Tavares, SL Guimarães-Ramos, Y Zhou, C Masotti, S Ezquina, ... Journal of Medical Genetics 59 (9), 895-905, 2022 | 6 | 2022 |
A scalable saliva-based, extraction-free rt-lamp protocol for sars-cov-2 diagnosis P Asprino, F Bettoni, A Camargo, D Coelho, G Coppini, I Correa, E Freitas, ... medRxiv, 2020.10. 27.20220541, 2020 | 6 | 2020 |
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? AG Silva, ACV Krepischi, GT Torrezan, LP Capelli, DM Carraro, ... European Journal of Human Genetics 22 (3), 307-309, 2014 | 4 | 2014 |
18th International HLA and Immunogenetics Workshop: Report on the SNP‐HLA Reference Consortium (SHLARC) component NSB Silva, S Bourguiba‐Hachemi, V Douillard, S Koskela, F Degenhardt, ... HLA 103 (1), e15293, 2024 | 3 | 2024 |