Publications
Vincent Jonchère et al.
Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation
Genome Biology 2024, vol. 25, issue 1
doi: 10.1186/s13059-024-03340-5
Charles Bobin et al.
Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy
Clinical Cancer Research 2024, vol. 30, issue 15
doi: 10.1158/1078-0432.ccr-24-0753
Yuta Ito et al.
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma
Cancer Research 2024, vol. 84, issue 13
doi: 10.1158/0008-5472.can-24-0132
Yuta Ito et al.
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma
Cancer Research 2024, vol. 84, issue 13
doi: 10.1158/0008-5472.can-24-0132
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
ExomeGénomeSingle NucleusTranscriptomeTranscriptomique spatiale
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
Gaëlle Odelin et al.
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Nature Communications 2023, vol. 14, issue 1
doi: 10.1038/s41467-023-37110-x
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
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
Nathalie Iannuccelli et al.
Rabbit targeted genomic sequences after heterologous hybridization using human exome
BMC Research Notes 2022, vol. 15, issue 1
doi: 10.1186/s13104-022-06162-5
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
Payel Banerjee et al.
Molecular and Cellular Analysis of the Repair of Zebrafish Optic Tectum Meninges Following Laser Injury
Cells 2022, vol. 11, issue 13
doi: 10.3390/cells11132016
Hong Joo Kim et al.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Nature Communications 2022, vol. 13, issue 1
doi: 10.1038/s41467-022-30015-1
Mathilde Dura et al.
DNMT3A-dependent DNA methylation is required for spermatogonial stem cells to commit to spermatogenesis
Nature Genetics 2022, vol. 54, issue 4
doi: 10.1038/s41588-022-01040-z
Lauriane Le Collen et al.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
Orphanet Journal of Rare Diseases 2022, vol. 17, issue 1
doi: 10.1186/s13023-022-02248-2
Nicolas Cornière et al.
Dominant negative mutation in oxalate transporterSLC26A6associated with enteric hyperoxaluria and nephrolithiasis
Journal of Medical Genetics 2022, vol. 59, issue 11
doi: 10.1136/jmedgenet-2021-108256
Sadia Saeed et al.
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan
Diabetes 2022, vol. 71, issue 4
doi: 10.2337/db21-0373
Prapaporn Jungtrakoon Thamtarana et al.
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia
The Journal of Clinical Endocrinology & Metabolism 2021, vol. 107, issue 3
doi: 10.1210/clinem/dgab790
Valérie Biancalana et al.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications 2021, vol. 9, issue 1
doi: 10.1186/s40478-021-01254-y