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• W3087338712 startingPage "307" @default.
• W3087338712 abstract "Neurodevelopmental disorders encompass a broad range of conditions, which include autism, epilepsy, and intellectual disability. These disorders are relatively common and have associated clinical and genetic heterogeneity. Technology has driven much of our understanding of these diseases and their genetic underlying mechanisms, particularly highlighted by the study of large cohorts with comparative genomic hybridization and the more recent implementation of next-generation sequencing (NGS). The mapping of copy number variants throughout the genome has highlighted the recurrent, highly penetrant, de novo variation in syndromic forms of neurodevelopmental disease. NGS of affected individuals and their parents led to a dramatic shift in our understanding as these studies showed that a significant proportion of affected individuals carry rare, de novo variants within single genes that explain their disease presentation. Deep sequencing studies further implicate mosaicism as another mechanism of disease. However, it has also become clear that while rare variants explain a significant proportion of sporadic neurodevelopmental disease, rare variation still does not fully account for the familial clustering and high heritability observed. Common variants, including those within these known disease genes, are also shown to contribute significantly to overall risk. There is also increasing awareness of the important contribution of epigenetic factors and gene–environment interactions." @default.
• W3087338712 created "2020-09-25" @default.
• W3087338712 creator A5021590955 @default.
• W3087338712 creator A5024422532 @default.
• W3087338712 creator A5039832491 @default.
• W3087338712 date "2020-01-01" @default.
• W3087338712 modified "2023-09-26" @default.
• W3087338712 title "Genetic mechanisms of neurodevelopmental disorders" @default.
• W3087338712 cites W1546528060 @default.
• W3087338712 cites W1591252575 @default.
• W3087338712 cites W1594988171 @default.
• W3087338712 cites W1650156802 @default.
• W3087338712 cites W1910409271 @default.
• W3087338712 cites W1963736913 @default.
• W3087338712 cites W1964444099 @default.
• W3087338712 cites W1965823557 @default.
• W3087338712 cites W1971321176 @default.
• W3087338712 cites W1972401591 @default.
• W3087338712 cites W1972571437 @default.
• W3087338712 cites W1974397205 @default.
• W3087338712 cites W1974652030 @default.
• W3087338712 cites W1976905805 @default.
• W3087338712 cites W1979856142 @default.
• W3087338712 cites W1980171391 @default.
• W3087338712 cites W1985498074 @default.
• W3087338712 cites W1985630557 @default.
• W3087338712 cites W1989187665 @default.
• W3087338712 cites W1993890839 @default.
• W3087338712 cites W1997070346 @default.
• W3087338712 cites W2002896974 @default.
• W3087338712 cites W2004892117 @default.
• W3087338712 cites W2008627757 @default.
• W3087338712 cites W2010458876 @default.
• W3087338712 cites W2017158973 @default.
• W3087338712 cites W2023235195 @default.
• W3087338712 cites W2024663595 @default.
• W3087338712 cites W2026740713 @default.
• W3087338712 cites W2033021653 @default.
• W3087338712 cites W2036770669 @default.
• W3087338712 cites W2036796020 @default.
• W3087338712 cites W2041422879 @default.
• W3087338712 cites W2045227722 @default.
• W3087338712 cites W2045392412 @default.
• W3087338712 cites W2050257229 @default.
• W3087338712 cites W2052827796 @default.
• W3087338712 cites W2053952465 @default.
• W3087338712 cites W2058202949 @default.
• W3087338712 cites W2058579886 @default.
• W3087338712 cites W2058601962 @default.
• W3087338712 cites W2060477176 @default.
• W3087338712 cites W2061682874 @default.
• W3087338712 cites W2064064788 @default.
• W3087338712 cites W2075183590 @default.
• W3087338712 cites W2079712925 @default.
• W3087338712 cites W2084258753 @default.
• W3087338712 cites W2087276835 @default.
• W3087338712 cites W2088697121 @default.
• W3087338712 cites W2089001389 @default.
• W3087338712 cites W2091134548 @default.
• W3087338712 cites W2093108299 @default.
• W3087338712 cites W2097406778 @default.
• W3087338712 cites W2098380802 @default.
• W3087338712 cites W2098597355 @default.
• W3087338712 cites W2100242214 @default.
• W3087338712 cites W2100772802 @default.
• W3087338712 cites W2101357408 @default.
• W3087338712 cites W2102814771 @default.
• W3087338712 cites W2106650442 @default.
• W3087338712 cites W2108994842 @default.
• W3087338712 cites W2109529720 @default.
• W3087338712 cites W2109637158 @default.
• W3087338712 cites W2109926048 @default.
• W3087338712 cites W2115558586 @default.
• W3087338712 cites W2116753165 @default.
• W3087338712 cites W2118321207 @default.
• W3087338712 cites W2119907069 @default.
• W3087338712 cites W2120575493 @default.
• W3087338712 cites W2122664375 @default.
• W3087338712 cites W2123352533 @default.
• W3087338712 cites W2124416664 @default.
• W3087338712 cites W2124873881 @default.
• W3087338712 cites W2127230663 @default.
• W3087338712 cites W2128161895 @default.
• W3087338712 cites W2128274087 @default.
• W3087338712 cites W2131104106 @default.
• W3087338712 cites W2134256373 @default.
• W3087338712 cites W2134544862 @default.
• W3087338712 cites W2137493625 @default.
• W3087338712 cites W2138033133 @default.
• W3087338712 cites W2141499822 @default.
• W3087338712 cites W2141865456 @default.
• W3087338712 cites W2144366487 @default.
• W3087338712 cites W2144601878 @default.
• W3087338712 cites W2149757018 @default.
• W3087338712 cites W2149779494 @default.
• W3087338712 cites W2150223775 @default.
• W3087338712 cites W2152079029 @default.
• W3087338712 cites W2154259233 @default.

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