| In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system RS Schuh, É Poletto, G Pasqualim, AMV Tavares, FS Meyer, EA Gonzalez, ... Journal of controlled release 288, 23-33, 2018 | 69 | 2018 |
| Emerging drugs for the treatment of mucopolysaccharidoses R Giugliani, A Federhen, F Vairo, C Vanzella, G Pasqualim, LMR Da Silva, ... Expert opinion on emerging drugs 21 (1), 9-26, 2016 | 67 | 2016 |
| Worldwide distribution of common IDUA pathogenic variants E Poletto, G Pasqualim, R Giugliani, U Matte, G Baldo Clinical Genetics 94 (1), 95-102, 2018 | 42 | 2018 |
| Estimated birth prevalence of mucopolysaccharidoses in Brazil A Federhen, G Pasqualim, TF de Freitas, EA Gonzalez, F Trapp, U Matte, ... American Journal of Medical Genetics Part A 182 (3), 469-483, 2020 | 36 | 2020 |
| Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders DR Málaga, AC Brusius-Facchin, M Siebert, G Pasqualim, ... Genetics and Molecular Biology 42 (1 suppl 1), 197-206, 2019 | 31 | 2019 |
| Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil H Bravo, EC Neto, J Schulte, J Pereira, C Sampaio Filho, F Bittencourt, ... Molecular Genetics and Metabolism Reports 12, 92-97, 2017 | 31 | 2017 |
| African-specific molecular taxonomy of prostate cancer W Jaratlerdsiri, J Jiang, T Gong, SM Patrick, C Willet, T Chew, RJ Lyons, ... Nature 609 (7927), 552-559, 2022 | 30 | 2022 |
| Current molecular genetics strategies for the diagnosis of lysosomal storage disorders R Giugliani, AC Brusius-Facchin, G Pasqualim, S Leistner-Segal, ... Expert review of molecular diagnostics 16 (1), 113-123, 2016 | 27 | 2016 |
| Fc gamma receptor IIA (CD32A) R131 polymorphism as a marker of genetic susceptibility to sepsis J Beppler, P Koehler-Santos, G Pasqualim, U Matte, CS Alho, FS Dias, ... Inflammation 39, 518-525, 2016 | 26 | 2016 |
| Fabry disease: a new approach for the screening of females in high-risk groups G Pasqualim, L Simon, F Sperb-Ludwig, MG Burin, K Michelin-Tirelli, ... Clinical biochemistry 47 (7-8), 657-662, 2014 | 26 | 2014 |
| Nasal administration of cationic nanoemulsions as nucleic acids delivery systems aiming at mucopolysaccharidosis type I gene therapy RS Schuh, J Bidone, E Poletto, CV Pinheiro, G Pasqualim, ... Pharmaceutical Research 35, 1-11, 2018 | 22 | 2018 |
| CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts TG de Carvalho, R Schuh, G Pasqualim, FM Pellenz, EC Filippi-Chiela, ... Gene 678, 33-37, 2018 | 20 | 2018 |
| Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I G Pasqualim, G Baldo, TG de Carvalho, AMV Tavares, R Giugliani, ... PLoS One 10 (2), e0117271, 2015 | 20 | 2015 |
| Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart AC Brusius-Facchin, M Siebert, D Leão, DR Malaga, G Pasqualim, ... Genetics and molecular biology 42, 207-214, 2019 | 15 | 2019 |
| Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers T Gong, W Jaratlerdsiri, J Jiang, C Willet, T Chew, SM Patrick, RJ Lyons, ... Genome medicine 14 (1), 100, 2022 | 14 | 2022 |
| Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice J Bidone, RS Schuh, M Farinon, É Poletto, G Pasqualim, PG de Oliveira, ... International Journal of Pharmaceutics 548 (1), 151-158, 2018 | 13 | 2018 |
| Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy EA Gonzalez, F Visioli, G Pasqualim, CFM de Souza, DR Marinho, ... Clinical & Experimental Ophthalmology 48 (3), 334-342, 2020 | 11 | 2020 |
| Minimal Estimated Incidence of MPS I, II, IV-A and VI in Brazil and Comparision to the rest of the world A Federhen, M Burin, S Leistner-Segal, U Matte, K Tirelli, A Facchin, ... 14th International Symposium on MPS and Related Diseases, Bonn, Germany, 1-82, 2016 | 11 | 2016 |
| Identification of mutations in Colombian patients affected with Fabry disease A Uribe, HE Mateus, JC Prieto, MF Palacios, SY Ospina, G Pasqualim, ... Gene 574 (2), 325-329, 2015 | 10 | 2015 |
| Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes P Borges, G Pasqualim, R Giugliani, F Vairo, U Matte Orphanet Journal of Rare Diseases 15, 1-9, 2020 | 9 | 2020 |
