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Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variabilityAnalysis of phenotypic features and FGFR2 mutations in Apert syndrome.De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndromeNewborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.Analysis of epigenetic changes in survivors of preterm birth reveals the effect of gestational age and evidence for a long term legacy.Use of amplitude integrated electroencephalography (aEEG) in patients with inborn errors of metabolism - a new tool for the metabolic geneticist.A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism.Neuronal migration abnormality in peroxisomal bifunctional enzyme defect.Quantitation of the cellular content of saliva and buccal swab samples.Relationship between Epigenetic Maturity and Respiratory Morbidity in Preterm InfantsIncreased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion
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0000-0001-7577-6004