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
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
Trinh J et al.
Journal of Human Genetics, 2018
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
Efthymiou S et al.
Journal of Pediatric Genetics, 2018
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
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham E et al.
American Journal of Human Genetics, 2015
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