Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variants
Development of an innovative hiPSC-derived cardiac-microtissue-based functional assay to determine the pathogenicity of genetic variants with uncertain significance identified in patients with inherited cardiac arrhythmia;
Inherited cardiac arrhythmias: identification of novel genes and development of a new diagnostic tool for translating genetic diagnosis into precision medicine.
IMAGica: an Integrative personalised Medical Approach for Genetic diseases, Inherited Cardiac Arrhythmias as a model
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Implication of inherited genetic variants associated with follicular lymphoma susceptibility in the prognosis of patients treated by immunochemotherapy in PRIMA study
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
De novo and inherited variants in GBF1 are associated with axonal neuropathy caused by Golgi fragmentation
Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment