The rare variants framework: insights into neuropsychiatric phenotypes provided by studies of rare genetic variants

JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY(2023)

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Abstract
Rare genetic disorders, a major cause of human morbidity, are frequently associated with an increased risk for neuropsychiatric disorders, including ADHD, ASD, and psychotic symptoms. More broadly, the field lacks an understanding of the genetic mechanisms underlying risk (and resilience) for neuropsychiatric phenotypes and requires more information on how genetic mechanisms translate into treatments.
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Key words
neuropsychiatric phenotypes,genetic variants,rare variants framework
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