Eric Pasmant

Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM

Affiliated withInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM Paris Cité University Institut Curie

Research Area

Cancer Research

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2025

Other Publications

Article	Year
Neurofibromatosis type 1: from genotype to phenotype. Journal of medical genetics\| PubMed ID: 22889851	2012
Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View. EBioMedicine\| PubMed ID: 27322453	2016
EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 30867289	2019
One Mutation may Conceal Another. Genes\| PubMed ID: 31443423	2019
"MPNST Epigenetics"-Letter. Molecular cancer research : MCR\| PubMed ID: 31575727	2019
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1. Human genetics\| PubMed ID: 35941319	2023
[Missense pathogenic variants in the exonuclease domain of polymerases Polε and Polδ in cancer: The risk of infidelity]. Medecine sciences : M/S\| PubMed ID: 36219073	2022
Biology and Management of High-Grade Chondrosarcoma: An Update on Targets and Treatment Options. International journal of molecular sciences\| PubMed ID: 36674874	2023
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. European journal of human genetics : EJHG\| PubMed ID: 36732663	2023
alterations in cancers: therapeutic implications in precision medicine. Expert opinion on investigational drugs\| PubMed ID: 37747491	2023
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. Journal of medical genetics\| PubMed ID: 37775264	2024
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1. The British journal of dermatology\| PubMed ID: 37831592	2024
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions. The Journal of molecular diagnostics : JMD\| PubMed ID: 38008284	2024
Breast cancer risk in -deleted patients. Journal of medical genetics\| PubMed ID: 38154814	2024
NF1 mutations as biomarker of response to immune checkpoint blockades for lung adenocarcinoma patients. NPJ precision oncology\| PubMed ID: 38341500	2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review. BMC medical genomics\| PubMed ID: 38448973	2024
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis. Familial cancer\| PubMed ID: 38763984	2024
Efficacy and Safety of Immune Checkpoint Blockade in Patients With Li-Fraumeni Syndrome. JCO precision oncology\| PubMed ID: 38848519	2024
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics. NPJ genomic medicine\| PubMed ID: 39245665	2024
Predisposition to prostate cancer and clinical implications in a real-life cohort. European journal of human genetics : EJHG\| PubMed ID: 40328961	2025
Lower Prevalence of Overweight and Obesity in Adults with Neurofibromatosis. The Journal of investigative dermatology\| PubMed ID: 40373955	2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants. Journal of medical genetics\| PubMed ID: 40759488	2025