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
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
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Troisi S et al.
European Journal of Medical Genetics, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM8_ESM.xlsx › Supplementary_Data_6
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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
Alkhateeb A et al.
Journal of Pediatric Genetics, 2019
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
Efthymiou S et al.
Journal of Pediatric Genetics, 2018
Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing.
Abdul SN et al.
Frontiers in Pharmacology, 2017
28769798 (PubMed )
Supplement: Table_1.XLSX › Supp.Table_5
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA et al.
American Journal of Human Genetics, 2015
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