Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
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
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
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Human Genetics, 2023
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Biorxiv : the Preprint Server for Biology, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N et al.
Epigenomics, 2023
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
The clinical spectrum of a nonsense mutation in KAT6A: a case report.
Wang D et al.
The Journal of International Medical Research, 2022
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
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
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
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
Alkhateeb A et al.
Journal of Pediatric Genetics, 2019
Variants in KAT6A and pituitary anomalies.
Zwaveling-Soonawala N et al.
American Journal of Medical Genetics. Part A, 2017
Screening of nucleotide variations in genomic sequences encoding charged protein regions in the human genome.
Belmabrouk S et al.
Bmc Genomics, 2017
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism.
Satoh C et al.
Human Genome Variation, 2017
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F et al.
American Journal of Medical Genetics. Part A, 2016
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
Molecular Analysis of Luminal Androgen Receptor Reveals Activated Pathways and Potential Therapeutic Targets in Breast Cancer.
Stella S et al.
Cancer Genomics & Proteomics, 0