Associated Papers
Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.
Bayat S et al.
Molecular Biology Reports, 2025
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
Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.
Ng R et al.
Orphanet Journal of Rare Diseases, 2024
Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2024
38773911 (PubMed )
Supplement: MGG3-12-e2420-s001.xlsx › Table_S1
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Human Genetics, 2023
37861717 (PubMed )
Supplement: 439_2023_2608_MOESM1_ESM.xlsx › TableS1_Patient_Mutations
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Biorxiv : the Preprint Server for Biology, 2023
37577627 (PubMed )
Supplement: media-2.xlsx › TableS1_Patient_Mutations
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
St John M et al.
American Journal of Medical Genetics. Part A, 2022
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Kaur S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R et al.
Orphanet Journal of Rare Diseases, 2020
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Timberlake AT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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