The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop

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Base-Resolution Analyses of Sequence and Parent-of-Origin Dependent DNA Methylation in the Mouse Genome

(2012) Wei Xie et al.   CELL

MeCP2 Binds to 5hmC Enriched within Active Genes and Accessible Chromatin in the Nervous System

(2012) Marian Mellén et al.   CELL

Mechanisms of long range silencing by imprinted macro non-coding RNAs

(2012) Florian M Pauler et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

(2012) Giuseppe Marangi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

(2012) Naseebullah Kakar et al.   European Journal of Medical Genetics

5-hmC in the brain is abundant in synaptic genes and shows differences at the exon-intron boundary

(2012) Tarang Khare et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dioxin receptor and SLUG transcription factors regulate the insulator activity of B1 SINE retrotransposons via an RNA polymerase switch

(2011) A. C. Roman et al.   GENOME RESEARCH

15q11.2–13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain

(2011) Dag H. Yasui et al.   HUMAN MOLECULAR GENETICS

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome

(2011) Makiko Meguro-Horike et al.   HUMAN MOLECULAR GENETICS

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome

(2011) Raffaella Nativio et al.   HUMAN MOLECULAR GENETICS

Chromosome-Wide Analysis of Parental Allele-Specific Chromatin and DNA Methylation

(2011) P. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

(2011) Sébastien A Smallwood et al.   NATURE GENETICS

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Histone H3K27ac separates active from poised enhancers and predicts developmental state

(2010) M. P. Creyghton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution Analysis of Parent-of-Origin Allelic Expression in the Mouse Brain

(2010) C. Gregg et al.   SCIENCE

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CTCF: Master Weaver of the Genome

(2009) Jennifer E. Phillips et al.   CELL

Histone modifications at human enhancers reflect global cell-type-specific gene expression

(2009) Nathaniel D. Heintzman et al.   NATURE

The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain

(2009) S. Kriaucionis et al.   SCIENCE

Cohesin Is Required for Higher-Order Chromatin Conformation at the Imprinted IGF2-H19 Locus

(2009) Raffaella Nativio et al.   PLoS Genetics

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Matrix Attachment Region and Chromosome Conformation Capture Quantitative Real Time PCR Assays Identify Novel Putative Regulatory Elements at the ImprintedDlk1/Gtl2Locus

(2008) Caroline Braem et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Air Noncoding RNA Epigenetically Silences Transcription by Targeting G9a to Chromatin

(2008) T. Nagano et al.   SCIENCE