In the UK10K project we propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wid

NIAID Data Ecosystem90

Datasheet1_The diagnostic yield of CGH and WES in neurodevelopmental disorders.pdf

临床遗传诊断

神经发育障碍基因

BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions a

NIAID Data Ecosystem50

Deciphering the role of CAPZA2 in neurodevelopmental disorders: Insights from mouse models

神经发育障碍基因

小鼠行为

Intellectual disability affects 1%-3% of the global population, with many unidentified genetic causes. This study investigates the role of CAPZA2, an actin cytoskeleton regulator, in neurodevelopmenta

Alliance of Genome Resources20

Additional file 1: of Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

自闭症谱系障碍遗传风险

神经发育障碍基因

High- Probability Risk ASD Gene Set. Table of seventy-six genes from AutDB determined to be âprobably damagingâ and included in the high-risk ASD gene set. (XLS 80Â kb)

NIAID Data Ecosystem80

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

神经发育障碍基因

神经元网络表型分析

Pathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder w

NIAID Data Ecosystem50