Exome

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

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

Tanya Stojkovic et al.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Journal of Neuromuscular Diseases 2022, vol. 10, issue 1
doi: 10.3233/jnd-221555

Mathilde Saint-Ghislain et al.
MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients
European Journal of Cancer 2022, vol. 173
doi: 10.1016/j.ejca.2022.06.033

Clémence Labasse et al.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Acta Neuropathologica Communications 2022, vol. 10, issue 1
doi: 10.1186/s40478-022-01400-0

Catherine Schramm et al.
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Genome Medicine 2022, vol. 14, issue 1
doi: 10.1186/s13073-022-01070-6