Associated Papers
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
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
Alkhateeb A et al.
Journal of Pediatric Genetics, 2019
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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