A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Longitudinal genome-wide DNA methylation analysis uncovers persistent early-life DNA methylation changes

(2019) Raúl F. Pérez et al.   Journal of Translational Medicine

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

(2019) Siddharth Banka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dissecting KMT2D missense mutations in Kabuki syndrome patients

(2018) Dario Cocciadiferro et al.   HUMAN MOLECULAR GENETICS

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

(2018) Víctor Faundes et al.   JOURNAL OF HUMAN GENETICS

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

(2017) Sonoko Sakata et al.   Frontiers in Genetics

KMT2Dp.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

(2016) Lauren Badalato et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

InteractiVenn: a web-based tool for the analysis of sets through Venn diagrams

(2015) Henry Heberle et al.   BMC BIOINFORMATICS

Intrinsically disordered proteins: emerging interaction specialists

(2015) Peter Tompa et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Establishing neural crest identity: a gene regulatory recipe

(2015) M. Simoes-Costa et al.   DEVELOPMENT

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

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

ChAMP: 450k Chip Analysis Methylation Pipeline

(2013) Tiffany J. Morris et al.   BIOINFORMATICS

The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease Pathogenesis

(2012) Ali Shilatifard   Annual Review of Biochemistry

MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

(2012) S Banka et al.   CLINICAL GENETICS

Age-associated DNA methylation in pediatric populations

(2012) R. S. Alisch et al.   GENOME RESEARCH

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

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

Genome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates

(2012) Gregory Hannum et al.   MOLECULAR CELL

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS