Publication Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Publication Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.
Publication Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism.
Publication Accounting for the association of family conflict and heavy alcohol use among adolescent girls: the role of depressed mood.
Publication Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for x linked hypopituitarism.
Publication Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
