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Attempts to bridge genetics and cognition are rapidly coming to the forefront of cognitive neuroscience. It is therefore crucial to evaluate the current state of knowledge about disorders of known genetic origin as a way of assessing whether, and if so how, links between genotype and cognitive phenotype can be drawn, however indirect these links might be. We review recent empirical findings from research on genetic disorders at three levels of description--cognitive, neural systems, and cellular--that caution against simple genotype-phenotype mappings at all levels. Most importantly, interdisciplinary efforts to integrate human genetics and cognition will need to operationalize the mechanisms driving both typical and atypical developmental processes over time.

Original publication




Journal article


Trends Cogn Sci

Publication Date





126 - 135


Brain, Child, Child, Preschool, Cognitive Science, Cooperative Behavior, Forecasting, Genetics, Behavioral, Genotype, Humans, Infant, Interprofessional Relations, Neural Networks (Computer), Neurosciences, Phenotype