Maladies rares :
2026
➔ Chesneau et al., 2026. Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. PMID : 41568967.
2025
➔ Konyukh et al., 2025. Genomic Analysis in Hereditary Neuropathy: Insights from a Nationwide French Cohort. ⟨hal-05467123⟩
➔ De Jonghe et al, 2025. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. PMID : 40297424.
➔ Masson et al., 2025. PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. PMID : 40965981.
➔ Nava et al., 2025. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. PMID : 40379786.
➔ Jury et al., 2025. Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder. PMID : 40962490.
➔ Quinodoz et al., 2025. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. PMID : 41513982.
➔ Suzuki et al., 2025. Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy. PMID : 40932142.
➔ Daire et al., 2025. MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort. PMID : 41165794
➔ Vaché et al., 2025. Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa. PMID : 38969740
➔ Maraval et al., 2025. Expanding MNS1 Heterotaxy Phenotype. PMID : 39233552.
➔ Aouchiche et al., 2025. CSNK2B Mutation: A Rare Cause of IGHD. PMID : 39676320.
➔ Le Collen et al., 2025. Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability? PMID : 39734048
➔ Kayal et al., 2025. Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria. PMID : 39088056.
➔ Piazzola et al., 2025. From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition. PMID : 41364279
2024
➔ Bernard et al. 2024. A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. PMID : 39125740.
➔ Schneider et al., 2024. Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature. PMID : 39073549.
Cancer :
2025
➔ Lopez et al., 2025. Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy. PMID : 39900383.
➔ Boedec et al., 2025. Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing. PMID : 39920402.
2024
➔ Legrand et al., 2024. Germline POT1 mutation and neuroblastoma: A mere coincidence or true association. PMID : 38706191.
PUBLICATIONS D’INTERET :
➔ PFMG contributors, 2025. PFMG2025–integrating genomic medicine into the national healthcare system in France. PMID: 40093400.
