Phenotype and functional genomics : introduction -- Evolution -- Genomic architecture and copy number changes -- Linkage, association, and linkage disequilibrium -- Regulation of transcription, splicing, and translation : impact of perturbation on phenotype -- Mitochondria : genome, functions, and phenotype -- Quality surveillance -- Neurodevelopment and functional genomics -- Neurobehavioral disorders -- Molecular analyses of malformation syndromes -- Multiple pathways including environmental factors that lead to a specific phenotype with later onset