Lou Grangeon et al.
Input of exome sequencing in early‐onset cerebral amyloid angiopathy
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring 2024, vol. 16, issue 4
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Exome

Andrea Zanetti et al.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
Nature Communications 2024, vol. 15, issue 1
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ExomeGénomeModèleSingle NucleusTranscriptomeAutres

Yohann Loriot et al.
The genomic and transcriptomic landscape of metastastic urothelial cancer
Nature Communications 2024, vol. 15, issue 1
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ExomeTranscriptome

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
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ExomeModèleSingle CellTranscriptomeAutres

Yvan de Feraudy et al.
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Genome Medicine 2024, vol. 16, issue 1
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Exome

Ryo Shiraishi et al.
Cancer-specific epigenome identifies oncogenic hijacking by nuclear factor I family proteins for medulloblastoma progression
Developmental Cell 2024, vol. 59, issue 17
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ExomeModèleRegulomeTranscriptome

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
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ExomeGénomeTarget

Maëva Veyssiere et al.
MYLK*FLNB and DOCK1*LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway
Frontiers in Genetics 2024, vol. 15
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Exome

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
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ExomeTranscriptome

Yosr Hamdi et al.
A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium
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ExomeTargetTranscriptome

Nilmara de Oliveira Alves et al.
The colibactin-producing Escherichia coli alters the tumor microenvironment to immunosuppressive lipid overload facilitating colorectal cancer progression and chemoresistance
Gut Microbes 2024, vol. 16, issue 1
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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
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Exome

Aurore Pire et al.
Mutational signature, cancer driver genes mutations and transcriptomic subgroups predict hepatoblastoma survival
European Journal of Cancer 2024, vol. 200
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ExomeGénomeTarget

Gaël Nicolas et al.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
Genetics in Medicine 2024, vol. 26, issue 5
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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
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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
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ExomeSingle CellTranscriptomeAutres

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
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ExomeGénomeTranscriptome

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
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ExomeTranscriptome

Mathieu Chicard et al.
Cell-Free DNA Extracted from CSF for the Molecular Diagnosis of Pediatric Embryonal Brain Tumors
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ExomeTarget

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
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Exome

Sadia Saeed et al.
Biallelic Mutations in P4HTM Cause Syndromic Obesity
Diabetes 2023, vol. 72, issue 9
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Exome

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
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ExomeTargetTranscriptome

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
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ExomeModèle

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
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ExomeGénome

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
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Exome

Nathalie Iannuccelli et al.
Rabbit targeted genomic sequences after heterologous hybridization using human exome
BMC Research Notes 2022, vol. 15, issue 1
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Exome

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
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Exome

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
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Exome

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
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BioinformatiqueExome

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
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Exome