Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome

(2019) Rodrigo Mendez et al.   CLINICAL DYSMORPHOLOGY

Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature

(2019) John C. Herriges et al.   Molecular Cytogenetics

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

(2018) Zeynep Coban-Akdemir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

(2018) F. Lonardo et al.   CLINICAL GENETICS

Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association

(2018) Samantha Knight et al.   PEDIATRIC BLOOD & CANCER

Novel truncating variants expand the phenotypic spectrum of KAT6B -related disorders

(2018) Alejandro Brea-Fernández et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum

(2018) T. Michael Yates et al.   CLINICAL GENETICS

De Novo Mutation of KAT6B Gene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

(2017) Guoqiang Li et al.   Fetal and Pediatric Pathology

Testing for Noonan syndrome after increased nuchal translucency

(2017) Marwan M. Ali et al.   PRENATAL DIAGNOSIS

A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

(2017) Yo Niida et al.   CONGENITAL ANOMALIES

Update on the Toriello-Carey syndrome

(2016) Helga V. Toriello et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

(2016) J. Radvanszky et al.   CLINICAL GENETICS

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

(2016) Egle Preiksaitiene et al.   OPHTHALMIC GENETICS

A recurrent synonymousKAT6Bmutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

(2015) Rüstem Yilmaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease

(2015) Xiang-Jiao Yang   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

(2015) Laia Simó-Riudalbas et al.   CANCER RESEARCH

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

(2015) Marketa Vlckova et al.   European Journal of Medical Genetics

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Further delineation of the KAT6B molecular and phenotypic spectrum

(2014) Tamsin Gannon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

(2013) Katalin Szakszon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

(2012) Michael A. Simpson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

(2012) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

(2012) Philippe M. Campeau et al.   HUMAN MUTATION

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

(2011) Jill Clayton-Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

(2011) Michael Kraft et al.   JOURNAL OF CLINICAL INVESTIGATION

MYST family histone acetyltransferases take center stage in stem cells and development

(2009) Anne K. Voss et al.   BIOESSAYS