Publication Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.
Publication Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
Publication Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
