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
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J et al.
Clinical Genetics, 2023
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F et al.
Npj Genomic Medicine, 2021
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