Exome

Yann Loe-Mie et al.
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes
Life 2024, vol. 14, issue 2
doi: 10.3390/life14020244

Aurore Pire et al.
Mutational signature, cancer driver genes mutations and transcriptomic subgroups predict hepatoblastoma survival
European Journal of Cancer 2024, vol. 200
doi: 10.1016/j.ejca.2024.113583

Jill Pilet et al.
Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma
Nature Communications 2023, vol. 14, issue 1
doi: 10.1038/s41467-023-42418-9

Marion Thibaudin et al.
First-line durvalumab and tremelimumab with chemotherapy in RAS-mutated metastatic colorectal cancer: a phase 1b/2 trial
Nature Medicine 2023, vol. 29, issue 8
doi: 10.1038/s41591-023-02497-z

Kevin Riquin et al.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Journal of Medical Genetics 2023, vol. 61, issue 1
doi: 10.1136/jmg-2023-109263

Amandine Desette et al.
Deciphering Brain Metastasis Stem Cell Properties From Colorectal Cancer Highlights Specific Stemness Signature and Shared Molecular Features
Cellular and Molecular Gastroenterology and Hepatology 2023, vol. 16, issue 5
doi: 10.1016/j.jcmgh.2023.07.008

Mathieu Chicard et al.
Cell-Free DNA Extracted from CSF for the Molecular Diagnosis of Pediatric Embryonal Brain Tumors
Cancers 2023, vol. 15, issue 13
doi: 10.3390/cancers15133532

Lauriane Le Collen et al.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
Genetics in Medicine 2023, vol. 25, issue 7
doi: 10.1016/j.gim.2023.100857

Sadia Saeed et al.
Biallelic Mutations in P4HTM Cause Syndromic Obesity
Diabetes 2023, vol. 72, issue 9
doi: 10.2337/db22-1017

Thibault Passeri et al.
The mutational landscape of skull base and spinal chordomas and the identification of potential prognostic and theranostic biomarkers
Journal of Neurosurgery 2023
doi: 10.3171/2023.1.jns222180