| Glucocerebrosidase is shaking up the synucleinopathies M Siebert, E Sidransky, W Westbroek Brain 137 (5), 1304-1322, 2014 | 167 | 2014 |
| Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach D Burguez, M Polese-Bonatto, LAJ Scudeiro, I Björkhem, L Schöls, ... Journal of the Neurological Sciences 383, 18-25, 2017 | 52 | 2017 |
| Assessment of anti-Müllerian hormone levels in premenopausal patients with systemic lupus erythematosus AA Gasparin, L Souza, M Siebert, RM Xavier, RMS Chakr, PE Palominos, ... Lupus 25 (3), 227-232, 2016 | 42 | 2016 |
| Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells M Siebert, W Westbroek, YC Chen, N Moaven, Y Li, A Velayati, ... RNA biology 11 (10), 1291-1300, 2014 | 41 | 2014 |
| A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease W Westbroek, M Nguyen, M Siebert, T Lindstrom, RA Burnett, E Aflaki, ... Disease models & mechanisms 9 (7), 769-778, 2016 | 34 | 2016 |
| 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 |
| Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 M Siebert, KC Donis, M Socal, CRM Rieder, VE Emmel, F Vairo, ... Parkinsonism & related disorders 18 (2), 185-190, 2012 | 29 | 2012 |
| Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease M Siebert, H Bock, K Michelin-Tirelli, JC Coelho, R Giugliani, ... JIMD Reports–Case and Research Reports, 2012/6, 7-16, 2013 | 28 | 2013 |
| NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study CM Torres, M Siebert, H Bock, SM Mota, BR Krammer, JÁ Duarte, ... Epilepsy Research 137, 1-8, 2017 | 22 | 2017 |
| Risk factors associated with the development of oral mucositis in pediatric oncology patients: Systematic review and meta‐analysis A de Farias Gabriel, FM Silveira, M Curra, LF Schuch, VP Wagner, ... Oral Diseases 28 (4), 1068-1084, 2022 | 21 | 2022 |
| Genetic profile of Brazilian patients with dystrophinopathies PAD De Almeida, MC Machado‐Costa, GN Manzoli, LS Ferreira, ... Clinical genetics 92 (2), 199-203, 2017 | 20 | 2017 |
| The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease T Koppe, D Doneda, M Siebert, L Paskulin, M Camargo, KM Tirelli, ... Genetics and molecular biology 39 (1), 30-34, 2016 | 20 | 2016 |
| Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 MVMB Wilke, AD Dornelles, AS Schuh, FP Vairo, SP Basgalupp, ... Orphanet Journal of Rare Diseases 14, 1-7, 2019 | 19 | 2019 |
| Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase L Pol-Fachin, M Siebert, H Verli, ML Saraiva-Pereira Glycoconjugate journal 33 (2), 237-244, 2016 | 19 | 2016 |
| Are cognitive changes in hereditary spastic paraplegias restricted to complicated forms? LA Jacinto-Scudeiro, G Dariva Machado, A Ayres, D Burguêz, ... Frontiers in neurology 10, 508, 2019 | 17 | 2019 |
| Contribuição de grupos operacionais no fortalecimento da atenção primária à saúde D Bueno, M Siebert Revista de APS 11 (4), 2008 | 17 | 2008 |
| Urinary soluble VCAM-1 is a useful biomarker of disease activity and treatment response in lupus nephritis AA Gasparin, NPB de Andrade, V Hax, PE Palominos, M Siebert, R Marx, ... BMC rheumatology 4, 1-10, 2020 | 16 | 2020 |
| Analysis of predictive biomarkers in patients with lung adenocarcinoma from southern Brazil reveals a distinct profile from other regions of the country TF Andreis, BS Correa, FS Vianna, F De-Paris, M Siebert, ... Journal of Global Oncology 5, 1-9, 2019 | 15 | 2019 |
| 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 |
| Liver involvement in patients with Gaucher disease types I and III RT Starosta, FP e Vairo, AD Dornelles, SP Basgalupp, M Siebert, ... Molecular Genetics and Metabolism Reports 22, 100564, 2020 | 14 | 2020 |
