Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

(2015) Emma Tham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Neural Crest Development and Craniofacial Morphogenesis Is Coordinated by Nitric Oxide and Histone Acetylation

(2014) Yawei Kong et al.   CHEMISTRY & BIOLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Making headway with genetic diagnostics of intellectual disabilities

(2013) M.H. Willemsen et al.   CLINICAL GENETICS

The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis

(2013) Flor M. Perez-Campo et al.   IMMUNOLOGY

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome

(2012) Anne K. Voss et al.   DEVELOPMENTAL CELL

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

(2012) C S Ku et al.   MOLECULAR PSYCHIATRY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The prevalence of mental retardation: a critical review of recent literature

(2010) Nel Roeleveld et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

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

(2009) Anne K. Voss et al.   BIOESSAYS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Moz and Retinoic Acid Coordinately Regulate H3K9 Acetylation, Hox Gene Expression, and Segment Identity

(2009) Anne K. Voss et al.   DEVELOPMENTAL CELL

The multidomain protein Brpf1 binds histones and is required for Hox gene expression and segmental identity

(2008) K. Laue et al.   DEVELOPMENT