Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

International audience

Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene

International audience

HIGH GRADE GLIOMAS AND DIPG

P09.084C - Strong interest of exome sequencing in progressive neurological diseases

International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the evolution (cerebellar ataxia, tremor, dystonia...). In molecular diagnosis, current strategies usually include sequential investigations that may lead to long, tedious, expensive and disappointing patients care. Exome sequencing (ES) appears a promising approach for neurogenetics, apart from when nucleotide motif expansion disorders can be suspected. Materials and Methods: We recruited 48 individuals without cognitive development impairment, ref…