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Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
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Unraveling the genetic basis of omphalocele: A systematic review
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PFMG2025–integrating genomic medicine into the national healthcare system in France
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Systematic analysis of SCN5A variants associated with inherited cardiac diseases
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Article dans une revue
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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
Ange-Line Bruel
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Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort
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Article dans une revue
hal-05285469v1
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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico
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Julitta de Bellescize
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Article dans une revue
hal-05037055v1
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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Kevin Riquin
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Article dans une revue
hal-04191468v1
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson
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Article dans une revue
hal-05290645v2
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Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial
Ruben Hermann
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Vincent Grobost
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Article dans une revue
hal-04884355v1
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3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier
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Article dans une revue
hal-04488411v1
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From Voxel to Gene: A Scoping Review on MRI Radiogenomics’ Artificial Intelligence Predictions in Adult Gliomas and Glioblastomas—The Promise of Virtual Biopsy?
Xavier Maximin Le Guillou Horn
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Clément Giraud
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Mathieu Naudin
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Article dans une revue
hal-05458670v1
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Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACO℡)
Vincent Grobost
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Article dans une revue
hal-04636068v1
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
Anne-Sophie Denommé-Pichon
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Ange-Line Bruel
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Article dans une revue
inserm-04094776v1
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NEXN gene in cardiomyopathies and sudden cardiac deaths: prevalence, phenotypic expression, and prognosis
Alexis Hermida
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Article dans une revue
hal-04380043v1
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Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis
Emmanuelle Masson
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hal-04188202v1
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Diagnostic and therapeutic issues in glioma using imaging data: the challenge of numerical twinning.”, journal of Nuclear Medicine
Rémy Guillevin
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Article dans une revue
hal-05458700v1
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Maria W. A. Teunissen
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Eline J. H. van Hugte
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Article dans une revue
hal-04456350v1
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry
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Article dans une revue
hal-03790515v1
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The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis
Emmanuelle Masson
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Maren Ewers
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Kiyoshi Kume
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Virginie Scotet
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Article dans une revue
hal-03921852v1
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Number of electrocardiogram leads in the diagnosis of spontaneous Brugada syndrome
Marine Arnaud
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Pauline Berthome
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Jean Briand
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Article dans une revue
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