Mathilde Filser
Heidelberg University(DE)University Hospital Heidelberg(DE)
Publications by Year
Research Areas
Renal and related cancers, Glioma Diagnosis and Treatment, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer, Neuroendocrine Tumor Research Advances
Most-Cited Works
- → Adaptive nanopore sequencing to determine pathogenicity ofBRCA1exonic duplication(2023)23 cited
- → MSH3: a confirmed predisposing gene for adenomatous polyposis(2023)10 cited
- → Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors(2024)6 cited
- → First report of medulloblastoma in a patient with MUTYH ‐associated polyposis(2023)5 cited
- → A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib(2024)5 cited
- → Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window(2024)4 cited
- → Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition(2025)4 cited
- → ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital(2025)2 cited
- → Nanopore sequencing as a cutting-edge technology for medulloblastoma classification(2024)2 cited
- → SMARCB1 ‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with SMARCB1 ‐related germline predisposition(2025)2 cited