Associated Papers
An explainable dataset linking facial phenotypes and genes to rare genetic diseases.
Song J et al.
Scientific Data, 2025
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ et al.
Genes, 2021
34440449 (PubMed )
Supplement: genes-12-01275-s001.zip › 1genes-1288097_SUPPLEMENTARY-MATERIAL_18082021.pdf
Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2021
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