Condition: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY


rs1553510301 in TBR1 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 30250039 2018 Functional characterization of TBR1 variants in neurodevelopmental disorder.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 14593429 2003 Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.