Maladies rares :
2026
➔ AURAGEN consortium, 2026. Unveiling ocular developmental disorders through short-read whole-genome sequencing. PMID : 42448966.
➔ Brunelle et al., 2026.Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up. PMID : 41776344.
➔ Carpentier et al., 2026. A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles. PMID : 42157368.
➔ Chesneau et al., 2026. Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. PMID : 41568967.
➔ Cuinat, et al., 2026. Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed. PMID : 42322192.
➔ De Jonghe et al., 2026.Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. PMID : 40297424.
➔ Dellal et al., 2026. From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity. PMID : 42154215.
➔ Quinodoz et al., 2026. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. PMID : 41513982.
➔ Leitao et al., 2026.Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. PMID : 41891335.
➔ Marelli et al., 2026.STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles. PMID : 41912934.
➔ Marin et al., 2026.PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research. PMID : 41795033.
➔ Marin, et al., 2026. Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: whole-genome sequencing and functional assessment PMID : 42461232.
➔ Pilar Chacon-Millan et al., 2026. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. PMID : 41643666.
➔ Rius et al., 2026. Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. PMID : 42151417.
➔ Tusseau et al., 2026.Novel TLR7 gain-of-function variant and review of the associated disease spectrum. PMID : 41846847.
2025
➔ Aouchiche et al., 2025. CSNK2B Mutation: A Rare Cause of IGHD. PMID : 39676320.
➔ Daire et al., 2025. MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort. PMID : 41165794
➔ De Jonghe et al, 2025. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. PMID : 40297424.
➔ Jury et al., 2025. Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder. PMID : 40962490.
➔ Kayal et al., 2025. Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria. PMID : 39088056.
➔ Konyukh et al., 2025. Genomic Analysis in Hereditary Neuropathy: Insights from a Nationwide French Cohort. ⟨hal-05467123⟩
➔ Le Collen et al., 2025. Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability? PMID : 39734048
➔ Maraval et al., 2025. Expanding MNS1 Heterotaxy Phenotype. PMID : 39233552.
➔ 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.
➔ 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
➔ 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.
➔ Vaché et al., 2025. Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa. PMID : 38969740
2024
➔ Bernard et al. 2024. A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. PMID : 39125740.
➔ Dorval et al., 2024 Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept PMID : 38944240
➔ 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 :
2026
➔ Momenkhan et al., 2026. Molecular profiling and personalized medicine within EURACAN in the SPECTA Arcagen study in comparison to the France Genomic Medicine 2025 Plan in the AURAGEN platform in peritoneal mesotheliomas. PMID : 42150333.
2025
➔ Boedec et al., 2025. Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing. PMID : 39920402.
➔ Lopez et al., 2025. Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy. PMID : 39900383.
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.
