Laboratoire de Génétique Médicale

Recent papers from Laboratoire de Génétique Médicale

1. Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasisGenome Medicine · 2026
2. Programmed cell death-1: from a T-cell immune checkpoint to a regulator of Natural Killer cell biologyFrontiers in Cell and Developmental Biology · 2026
3. Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis SyndromeAmerican Journal of Medical Genetics Part A · 2026
4. Concentration-Adaptive AND-Gate Probe Enables High-Fidelity Imaging of miRNA in Live CellsACS Sensors · 2026
5. Double non-allelic somatic activating oncogene variants in a series of mosaic vascular anomaliesBritish Journal of Dermatology · 2025
6. Knee Osteoarthritis Diagnosis: Future and PerspectivesBiomedicines · 2025
7. A Lysosome-Targeted Iridium(III) Complex Inducing Pyroptosis for Enhanced Sonodynamic Therapy of Colorectal CancerJournal of Medicinal Chemistry · 2025
8. Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohortOrphanet Journal of Rare Diseases · 2025
9. Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAmerican Journal of Medical Genetics Part A · 2025
10. Bioinspired Multivalent Aptamer DNA Nanowires for Cancer Cell-Targeted TherapyACS Applied Nano Materials · 2025
11. Lipidic Nanoclusters-Assisted Spatial Confinement Signal Amplification for Ratiometric MicroRNA SensingACS Applied Nano Materials · 2025
12. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders2025
13. Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tractEuropean Journal of Medical Genetics · 2025
14. High-Efficiency Capture and Proteomic Analysis of Plasma-Derived Extracellular Vesicles through Affinity PurificationAnalytical Chemistry · 2025
15. GoFCards: an integrated database and analytic platform for gain of function variants in humansNucleic Acids Research · 2024
16. Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with InfertilityInternational Journal of Molecular Sciences · 2024
17. Associated Anomalies in Radial Ray DeficiencyAmerican Journal of Medical Genetics Part A · 2024
18. Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?International Journal of Laboratory Hematology · 2024
19. Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndromeAmerican Journal of Medical Genetics Part A · 2024
20. [Epidemiological and clinical profile of ocular eviscerations in northern Algeria, about 136 cases].2024