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
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.
Kohsaka S et al.
Npj Precision Oncology, 2024
38789724 (PubMed )
Supplement: 41698_2024_610_MOESM3_ESM.xlsx › Supplementary_Data_2
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.
Sng CCT et al.
Frontiers in Immunology, 2024
38558815 (PubMed )
Supplement: Table_1.xlsx › S1_c
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM et al.
Human Mutation, 2021
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Mubungu G et al.
American Journal of Medical Genetics. Part A, 2021
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Cardoso-Dos-Santos AC et al.
Molecular Syndromology, 2020
Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant.
He P et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2020
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
Cheng X et al.
Molecular Genetics & Genomic Medicine, 2019
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
García-Acero M et al.
Molecular Syndromology, 2017
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