Associated Papers
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
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
Redefining the MED13L syndrome.
Adegbola A et al.
European Journal of Human Genetics : Ejhg, 2015
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M et al.
Molecular Autism, 2015
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