Génétique Médicale & Génomique Fonctionelle

Recent papers from Génétique Médicale & Génomique Fonctionelle

1. Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve HyperexcitabilityAnnals of Neurology · 2026
2. Acute neuro-inflammatory presentation of ATP1A3 variants: Case reports of three patients with different phenotypesArchives de Pédiatrie · 2026
3. Unveiling the immune microenvironment in sinonasal intestinal type adenocarcinoma: new arguments for immunotherapyOncoImmunology · 2026
4. Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiencesEuropean Journal of Human Genetics · 2026
5. Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnairesOrphanet Journal of Rare Diseases · 2026
6. KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelCommunications Biology · 2026
7. Postnatal overfeeding accelerates cardiomyocyte maturation and programs cardiac hypertrophyArchives of cardiovascular diseases · 2026
8. De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsThe American Journal of Human Genetics · 2026
9. A progeria syndrome links DNA hypermethylation to age-related pathologyNature Genetics · 2026
10. LDLR -3′UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based StudiesArteriosclerosis Thrombosis and Vascular Biology · 2026
11. Burst-Suppression EEG in Early Infantile Developmental and Epileptic EncephalopathiesNeurology · 2026
12. Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsCommunications Medicine · 2026
13. Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsFrontiers in Genetics · 2026
14. Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 MutationJournal of the American College of Cardiology · 2017
15. A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variantsScientific Data · 2026
16. Cancer risks for ATM variant heterozygotes.2026
17. Screening for Copy Number Variation in Genes Associated With the Long QT SyndromeJournal of the American College of Cardiology · 2010
18. Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsEuropean Journal of Human Genetics · 2026
19. The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisiScience · 2026
20. Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart DefectsAmerican Journal of Medical Genetics Part A · 2026