DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2 ‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer

The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome

(2019) Feifei Sun et al.   JOURNAL OF HUMAN GENETICS

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

(2019) Daniel N. Weinberg et al.   NATURE

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer

(2018) Hidenori Hidaka et al.   Clinical Epigenetics

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

(2017) Masayo Kagami et al.   GENETICS IN MEDICINE

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

(2016) Camille Tlemsani et al.   JOURNAL OF MEDICAL GENETICS

Targeted DNA demethylation in vivo using dCas9–peptide repeat and scFv–TET1 catalytic domain fusions

(2016) Sumiyo Morita et al.   NATURE BIOTECHNOLOGY

Essential role of insulin-like growth factor 2 in resistance to histone deacetylase inhibitors

(2016) S-C Lee et al.   ONCOGENE

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation

(2015) Tuncay Baubec et al.   NATURE

Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues

(2015) Jason Ernst et al.   NATURE BIOTECHNOLOGY

The role and interaction of imprinted genes in human fetal growth

(2015) G. E. Moore et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

In vivo targeting of de novo DNA methylation by histone modifications in yeast and mouse

(2015) Marco Morselli et al.   eLife

Epigenetic regulation of theIgf2/H19gene cluster

(2014) M. Nordin et al.   CELL PROLIFERATION

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

(2014) Toshiyuki Maeda et al.   GENETICS IN MEDICINE

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

(2013) Hidenobu Soejima et al.   JOURNAL OF HUMAN GENETICS

GPMiner: an integrated system for mining combinatorial cis-regulatory elements in mammalian gene group

(2012) Tzong-Yi Lee et al.   BMC GENOMICS

The Structure of NSD1 Reveals an Autoregulatory Mechanism Underlying Histone H3K36 Methylation

(2011) Qi Qiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation

(2010) Arunkumar Dhayalan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

(2010) A. K. Lucio-Eterovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

(2010) Masayo Kagami et al.   PLoS Genetics

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate

(2009) Yan Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

(2009) M. Berdasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

(2008) Adele Murrell et al.   PLoS One