0000000001306531
AUTHOR
A. Bruel
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018; International audience
Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes
International audience
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…
CCDC 914330: Experimental Crystal Structure Determination
Related Article: Y.Rousselin, A.Bruel, A.Clavel|2012|Acta Crystallogr.,Sect.E:Struct.Rep.Online|68|o3352|doi:10.1107/S1600536812045813