Associated Papers
Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.
Wang P et al.
Orphanet Journal of Rare Diseases, 2025
40500800 (PubMed )
Supplement: 13023_2025_3829_MOESM2_ESM.xlsx › Cases
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth JK et al.
Human Mutation, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
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