Publication Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Publication The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
Publication Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
Publication Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Publication Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Publication Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
Publication Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness.
