Associated Papers
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N et al.
Brain : a Journal of Neurology, 2022
34077496 (PubMed )
Supplement: awab209_supplementary_data.zip › brain-2020-02299-File011.pdf
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 2019
31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia A et al.
Npj Genomic Medicine, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Ma M et al.
The Journal of Pediatrics, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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