Associated Papers
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
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
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 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
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N et al.
Epigenomics, 2023
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N et al.
Genes, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
Pantothenate and L-Carnitine Supplementation Improves Pathological Alterations in Cellular Models of KAT6A Syndrome.
Munuera-Cabeza M et al.
Genes, 2022
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
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.
Zu G et al.
Cancers, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Troisi S et al.
European Journal of Medical Genetics, 2022
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 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
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 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
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
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