KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

Hox genes in development and beyond

(2023) Katharine A. Hubert et al.   DEVELOPMENT

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

(2023) Aileen A. Nava et al.   HUMAN GENETICS

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

(2023) Isabella Lin et al.   JCI Insight

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

(2022) Zain Awamleh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Adult mouse fibroblasts retain organ-specific transcriptomic identity

(2022) Elvira Forte et al.   eLife

DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features

(2022) Leroy Bondhus et al.   BMC BIOINFORMATICS

BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease

(2022) Gaoyu Zu et al.   Cancers

Potential Functions of Histone H3.3 Lysine 56 Acetylation in Mammals

(2021) Lei Fang et al.   Epigenetics

Role of HOXC10 in Cancer

(2021) Jinyong Fang et al.   Frontiers in Oncology

Fibroblast Memory in Development, Homeostasis and Disease

(2021) Thomas Kirk et al.   Cells

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

(2020) Kezhi Yan et al.   Science Advances

Guidance for DNA methylation studies: statistical insights from the Illumina EPIC array

(2019) Georgina Mansell et al.   BMC GENOMICS

g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)

(2019) Uku Raudvere et al.   NUCLEIC ACIDS RESEARCH

MOZ directs the distal-less homeobox gene expression program during craniofacial development

(2019) Hannah K. Vanyai et al.   DEVELOPMENT

Distinct transcriptional roles for Histone H3-K56 acetylation during the cell cycle in Yeast

(2019) Salih Topal et al.   Nature Communications

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

(2019) Muhammad Aslam et al.   Scientific Reports

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Heavy-tailed prior distributions for sequence count data: removing the noise and preserving large differences

(2018) Anqi Zhu et al.   BIOINFORMATICS

An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues

(2017) M Ryan Corces et al.   NATURE METHODS

MOZ (KAT6A) is essential for the maintenance of classically defined adult hematopoietic stem cells

(2016) B. N. Sheikh et al.   BLOOD

Complete Workflow for Analysis of Histone Post-translational Modifications Using Bottom-up Mass Spectrometry: From Histone Extraction to Data Analysis

(2016) Simone Sidoli et al.   Jove-Journal of Visualized Experiments

DNA methylation and healthy human aging

(2015) Meaghan J. Jones et al.   AGING CELL

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

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

(2014) Martin J. Aryee et al.   BIOINFORMATICS

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

(2014) Yawei Kong et al.   CHEMISTRY & BIOLOGY

Histone acetyltransferase Enok regulates oocyte polarization by promoting expression of the actin nucleation factorspire

(2014) Fu Huang et al.   GENES & DEVELOPMENT

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Hox Genes: Choreographers in Neural Development, Architects of Circuit Organization

(2013) Polyxeni Philippidou et al.   NEURON

Low-level processing of Illumina Infinium DNA Methylation BeadArrays

(2013) Timothy J. Triche et al.   NUCLEIC ACIDS RESEARCH

The double PHD finger domain of MOZ/MYST3 induces  -helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification

(2013) I. Dreveny et al.   NUCLEIC ACIDS RESEARCH

Acetylated histone H3K56 interacts with Oct4 to promote mouse embryonic stem cell pluripotency

(2013) Y. Tan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MOZ increases p53 acetylation and premature senescence through its complex formation with PML

(2013) S. Rokudai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Cadherins and neuropsychiatric disorders

(2012) Christoph Redies et al.   BRAIN RESEARCH

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

(2012) Eva Klopocki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PKNOX2 is Associated with Formal Thought Disorder in Schizophrenia: a Meta-Analysis of Two Genome-wide Association Studies

(2012) Ke-Sheng Wang et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Histone H3-K56 acetylation is important for genomic stability in mammals

(2011) Jian Yuan et al.   CELL CYCLE

PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca2+/Calmodulin-Dependent kinase II-δ activation in mouse models of down syndrome

(2011) François Mouton-Liger et al.   JOURNAL OF COMPARATIVE NEUROLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Hox genes and regional patterning of the vertebrate body plan

(2010) Moises Mallo et al.   DEVELOPMENTAL BIOLOGY

Dynamic changes in the human methylome during differentiation

(2010) L. Laurent et al.   GENOME RESEARCH

The histone acetyl transferase activity of monocytic leukemia zinc finger is critical for the proliferation of hematopoietic precursors

(2009) F. M. Perez-Campo et al.   BLOOD

Brpf1, a subunit of the MOZ histone acetyl transferase complex, maintains expression of anterior and posterior Hox genes for proper patterning of craniofacial and caudal skeletons

(2009) Kenta Hibiya et al.   DEVELOPMENTAL BIOLOGY

Restricted patterns of Hoxd10 and Hoxd11 set segmental differences in motoneuron subtype complement in the lumbosacral spinal cord

(2009) Mala Misra et al.   DEVELOPMENTAL BIOLOGY

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

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

Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells

(2009) Madeleine P Ball et al.   NATURE BIOTECHNOLOGY