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Anne-Sophie Denommé-Pichon
Also known as: Anne-Sophie Denommé
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities
0000-0002-8986-8222
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Publications (129)
- Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration Save
- ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy. Save
- Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder. Save
- Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses. Save
- EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects. Save
- The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS Save
- ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes Save
- Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. Save
- Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder Save
- Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium Save
- ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes Save
- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders. Save
- Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project Save
- An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations Save
- The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations. Save
- Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort. Save
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study. Save
- A clinical and genotype-phenotype analysis of MACF1 variants. Save
- Further phenotypical delineation of DLG3-related neurodevelopmental disorders. Save
- Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies Save