Associated Papers
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.
Jiang N et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Sennes MGS et al.
Clinical Genetics, 2025
40501103 (PubMed )
Supplement: CGE-108-654-s003.xlsx › References
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
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_
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM et al.
Human Mutation, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Cardoso-Dos-Santos AC et al.
Molecular Syndromology, 2020
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
Cheng X et al.
Molecular Genetics & Genomic Medicine, 2019
The phenotypic spectrum of Xia-Gibbs syndrome.
Jiang Y et al.
American Journal of Medical Genetics. Part A, 2018
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