Publication Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Publication T cell regulation mediated by interaction of soluble CD52 with the inhibitory receptor Siglec-10
Publication A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
Publication Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia
Publication Prospective evaluation of respiratory exacerbations in children with cystic fibrosis from newborn screening to 5 years of age
Publication Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics
Publication A preliminary investigation of moral reasoning and empathy after traumatic brain injury in adolescents
Publication A preliminary investigation into psychosocial outcome and quality-of-life in adolescents following childhood traumatic brain injury
