Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

(2017) Ilaria Parenti et al.   HUMAN GENETICS

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation inKMT2A

(2016) Emilia Stellacci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

(2016) Andrew W. Lindsley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

(2015) N. Miyake et al.   CLINICAL GENETICS

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis

(2015) Jiyuan Zhang et al.   NATURE MEDICINE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)

(2014) Bryce A. Mendelsohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

(2014) Maria Lisa Dentici et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

Accounting for Population Stratification in DNA Methylation Studies

(2014) Richard T. Barfield et al.   GENETIC EPIDEMIOLOGY

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

Quantitative Dissection and Stoichiometry Determination of the Human SET1/MLL Histone Methyltransferase Complexes

(2013) R. van Nuland et al.   MOLECULAR AND CELLULAR BIOLOGY

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

(2012) Andrew E Jaffe et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

(2012)   NATURE

Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling pathways

(2012) C. Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

The N-terminus of histone H3 is required for de novo DNA methylation in chromatin

(2009) Jia-Lei Hu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation

(2008) Jing Wang et al.   NATURE GENETICS