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Publication

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Publication

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan

Publication

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Publication

Psychiatric outcomes at age seven for very preterm children: rates and predictors

Publication

Verbal ability and language outcome following traumatic brain injury in early childhood

Publication

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia

Publication

Identification of recurrent FGFR3 fusion genes in lung cancer through kinome-centred RNA sequencing

Publication

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

Publication

Fractional polynomial adjustment for time-varying covariates in a self-controlled case series analysis

Publication

Prospective evaluation of respiratory exacerbations in children with cystic fibrosis from newborn screening to 5 years of age