| Coronavirus disease 2019 pandemic: impact caused by school closure and national lockdown on pediatric visits and admissions for viral and nonviral infections—a time series … F Angoulvant, N Ouldali, DD Yang, M Filser, V Gajdos, A Rybak, R Guedj, ... Clinical Infectious Diseases 72 (2), 319-322, 2021 | 346 | 2021 |
| SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation JM de Sainte Agathe, M Filser, B Isidor, T Besnard, P Gueguen, A Perrin, ... Human Genomics 17 (1), 7, 2023 | 86 | 2023 |
| Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis M Filser, M Giansily-Blaizot, M Grenier, D Monedero Alonso, G Bouyer, ... Blood, The Journal of the American Society of Hematology 137 (13), 1828-1832, 2021 | 29 | 2021 |
| Low incidence of EPOR mutations in idiopathic erythrocytosis M Filser, B Aral, F Airaud, A Chauveau, A Bruce, Y Polfrit, A Thiebaut, ... Haematologica 106 (1), 299, 2020 | 19 | 2020 |
| Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication M Filser, M Schwartz, K Merchadou, A Hamza, MC Villy, A Decees, ... Journal of Medical Genetics 60 (12), 1206-1209, 2023 | 11 | 2023 |
| MSH3: a confirmed predisposing gene for adenomatous polyposis MC Villy, J Masliah-Planchon, A Schnitzler, H Delhomelle, B Buecher, ... Journal of Medical Genetics 60 (12), 1198-1205, 2023 | 7 | 2023 |
| Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin M Filser, B Gardie, M Wemeau, P Aguilar-Martinez, M Giansily-Blaizot, ... Genes 13 (1), 132, 2022 | 4 | 2022 |
| Impact of interferon on a triple positive polycythemia vera H Campario, M Mosca, B Aral, V Bourgeois, P Martin, A Brustel, M Filser, ... Leukemia 34 (4), 1210-1212, 2020 | 4 | 2020 |
| Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors G Thomson, M Filser, L Guerrini-Rousseau, A Tauziede-Espariat, ... Neuro-oncology 26 (11), 2102-2112, 2024 | 3 | 2024 |
| First report of medulloblastoma in a patient with MUTYH‐associated polyposis MC Villy, M Warcoin, M Filser, B Buecher, L Golmard, V Suybeng, ... Neuropathology and Applied Neurobiology 49 (4), e12929, 2023 | 3 | 2023 |
| X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation A Buffet, M Filser, A Bruel, R Dard, T Quibel, C Dubucs, T Kwon, ... Genetics in Medicine 27 (2), 101217, 2025 | 2 | 2025 |
| Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling A Tauziède-Espariat, J Masliah-Planchon, S Tran, M Filser, R Saffroy, ... Neuropathology and applied neurobiology 50 (1), e12951, 2024 | 1 | 2024 |
| Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window L Guerrini-Rousseau, J Masliah-Planchon, M Filser, A Tauziède-Espariat, ... Neuro-oncology advances 6 (1), vdae075, 2024 | 1 | 2024 |
| MEDB-84. The French experience of ELP1-related medulloblastomas A Tauziède-Espariat, L Guerrini-Rousseau, A Perrier, J Torrejon, ... Neuro-Oncology 24 (Supplement_1), i126-i126, 2022 | 1 | 2022 |
| Germline pathogenic DROSHA variants are linked to pineoblastoma and Wilms tumor predisposition PN Fiorica, L Golmard, J Kim, R Bao, FY Lin, A Roy, A Pribnow, ... Clinical Cancer Research, 2025 | | 2025 |
| A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib B Boulouadnine, M Filser, C Leducq, T Losole, J Bies, S Smetsers, ... Genetics in Medicine 27 (2), 101334, 2025 | | 2025 |
| SMARCB1‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with SMARCB1‐related germline predisposition J Cyrta, J Masliah‐Planchon, O Hoare, R Brillet, M Andrianteranagna, ... The Journal of Pathology, 2025 | | 2025 |
| Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification M Filser, J Torrejon, K Merchadou, C Dufour, E Girard, C Bourneix, ... Neuro-Oncology, noae279, 2024 | | 2024 |
| MDB-12. NANOPORE SEQUENCING AS A CUTTING-EDGE TECHNOLOGY FOR MEDULLOBLASTOMA CLASSIFICATION M Filser, J Torrejon, K Merchadou, E Girard, C Bourneix, E Lemaître, ... Neuro-Oncology 26 (Suppl 4), 0, 2024 | | 2024 |
| NFS-02. MEDULLOBLASTOMAS WITH ELP1 PATHOGENIC VARIANTS: A WEAKLY PENETRANT SYNDROME WITH A RESTRICTED SPECTRUM IN A LIMITED AGE WINDOW L GUERRINI-ROUSSEAU, J Masliah-Planchon, M Filser, ... Neuro-Oncology 26 (Suppl 4), 0, 2024 | | 2024 |
