Associated Papers
Establishment and characterization of 24 breast cancer cell lines and 3 breast cancer organoids reveals molecular heterogeneity and drug response variability in malignant pleural effusion-derived models.
Kim SC et al.
Breast Cancer Research : Bcr, 2025
Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Bergamasco MI et al.
The Journal of Clinical Investigation, 2024
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M et al.
Molecular Genetics & Genomic Medicine, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo F et al.
Clinical Genetics, 2019
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A et al.
American Journal of Medical Genetics. Part A, 2019
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J et al.
Clinical Genetics, 2017
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T et al.
European Journal of Human Genetics : Ejhg, 2015
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Yu HC et al.
American Journal of Medical Genetics. Part A, 2014
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
Szakszon K et al.
American Journal of Medical Genetics. Part A, 2013
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM et al.
Human Mutation, 2012
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J et al.
American Journal of Human Genetics, 2011