13 research outputs found
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia
No full textExperiences of patients seeking to participate in variant of uncertain significance reclassification research
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
No full textItem does not contain fulltextTo identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
No full textMeta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
No full textDiagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document
No full textExploring the heterogeneity of neural social indices for genetically distinct etiologies of autism
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