Associated Papers
De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.
Liang XY et al.
Epilepsia, 2025
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
White-Brown A et al.
American Journal of Medical Genetics. Part A, 2023
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC et al.
Cell Reports, 2022
35294868 (PubMed )
Supplement: NIHMS1789669-supplement-4.xlsx › S3
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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