Publication Using documents to investigate links between implementation and sustainability in a complex community intervention: the PRISM study.
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
