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

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

Alexis Dereeper et al.
Naegleria genus pangenome reveals new structural and functional insights into the versatility of these free-living amoebae
Frontiers in Microbiology 2023, vol. 13
doi: 10.3389/fmicb.2022.1056418

Loïc Couloigner et al.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Clinical Genetics 2022
doi: 10.1111/cge.14270