Publications by authors named "Mathilde Filser"

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Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.
Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah

NPJ Genom Med· September 2025

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Spinal and Leptomeningeal Infantile Glioma With Raf1 Fusion: Diagnostic Challenges for a Potentially Novel Tumour Type.
Arnault Tauziède-Espariat, Alice Métais, Kathleen Schieffer, Ke Qin, Mathilde Duchesne, Mathilde Filser

Neuropathol Appl Neurobiol· August 2025

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A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.
Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah

NPJ Genom Med· July 2025

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Nanopore sequencing as a cutting-edge technology for medulloblastoma classification.
Mathilde Filser, Jacob Torrejon, Kevin Merchadou, Christelle Dufour, Elodie Girard

Neuro Oncol· June 2025

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ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.
Arnault Tauziède-Espariat, Alexandre Roux, Joseph Benzakoun, Paul Kauv, Sanaa Tazi, Mathilde Filser

Acta Neuropathol Commun· June 2025

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Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Peter N Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y Lin, Mathilde Filser

Clin Cancer Res· April 2025

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SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.
Joanna Cyrta, Julien Masliah-Planchon, Owen Hoare, Riwan Brillet, Mamy Andrianteranagna, Mathilde Filser

J Pathol· March 2025

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X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Alexandre Buffet, Mathilde Filser, Alexandra Bruel, Rodolphe Dard, Thibaud Quibel

Genet Med· February 2025

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A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boutaina Boulouadnine, Mathilde Filser, Camille Leducq, Taylor Losole, Joshua Bies

Genet Med· February 2025

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Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Grégory Thomson, Mathilde Filser, Léa Guerrini-Rousseau, Arnault Tauziede-Espariat, Christine Bourneix

Neuro Oncol· November 2024

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Medulloblastomas with pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Mathilde Filser, Arnault Tauziède-Espariat, Natacha Entz-Werle

Neurooncol Adv· May 2024

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Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling.
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Suzanne Tran, Mathilde Filser, Raphaël Saffroy

Neuropathol Appl Neurobiol· February 2024

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Adaptive nanopore sequencing to determine pathogenicity of exonic duplication.
Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy

J Med Genet· November 2023

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: a confirmed predisposing gene for adenomatous polyposis.
Marie-Charlotte Villy, Julien Masliah-Planchon, Anne Schnitzler, Hélène Delhomelle, Bruno Buecher, Mathilde Filser

J Med Genet· November 2023

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First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard

Neuropathol Appl Neurobiol· August 2023

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen

Hum Genomics· February 2023

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Importance of Sequencing , and Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.
Mathilde Filser, Betty Gardie, Mathieu Wemeau, Patricia Aguilar-Martinez, Muriel Giansily-Blaizot

Genes (Basel)· January 2022

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[Abstracts of the 4th CoBioMe Congress].
Julie Brousseau, Mathilda Bastide, Margaux Cadenet, Amandine Caillault, Morgane Ducastel, Mathilde Filser

Ann Biol Clin (Paris)· June 2021

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Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.
Mathilde Filser, Muriel Giansily-Blaizot, Mélanie Grenier, David Monedero Alonso, Guillaume Bouyer

Blood· April 2021

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Low incidence of mutations in idiopathic erythrocytosis.
Mathilde Filser, Bernard Aral, Fabrice Airaud, Aurélie Chauveau, Aisha Bruce

Haematologica· January 2021

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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 Analysis.
François Angoulvant, Naïm Ouldali, David Dawei Yang, Mathilde Filser, Vincent Gajdos

Clin Infect Dis· January 2021

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Impact of interferon on a triple positive polycythemia vera.
Hugo Campario, Matthieu Mosca, Bernard Aral, Valentin Bourgeois, Pauline Martin, Mathilde Filser

Leukemia· April 2020

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