Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Social Behaviour and Epigenetic Status in Adolescent and Adult Rats: The Contribution of Early-Life Stressful Social Experience

(2019) Christopher Karen et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

The DNMT3A R882H mutant displays altered flanking sequence preferences

(2018) Max Emperle et al.   NUCLEIC ACIDS RESEARCH

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

(2018) Patricia Heyn et al.   NATURE GENETICS

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiarDNMT3AR882 mutation

(2017) Iris H I M Hollink et al.   JOURNAL OF MEDICAL GENETICS

The DNA methyltransferase family: a versatile toolkit for epigenetic regulation

(2017) Frank Lyko   NATURE REVIEWS GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

(2016) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation inFIBPgene

(2016) Nadia Akawi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dnmt3a and Dnmt3b Associate with Enhancers to Regulate Human Epidermal Stem Cell Homeostasis

(2016) Lorenzo Rinaldi et al.   Cell Stem Cell

Recent Advances in Imprinting Disorders

(2016) L. Soellner et al.   CLINICAL GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations inSETD2cause a novel overgrowth condition

(2014) Armelle Luscan 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

DNA Methyl Transferase (DNMT) Gene Polymorphisms Could Be a Primary Event in Epigenetic Susceptibility to Schizophrenia

(2014) Koramannil Radha Saradalekshmi et al.   PLoS One

Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype

(2013) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

(2011) Matthew R. Fickie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Synaptic changes in the brain of subjects with schizophrenia

(2011) Gábor Faludi et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Integrated genomic analyses of ovarian carcinoma

(2011) D. Bell et al.   NATURE

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Array-based genomic resequencing of human leukemia

(2010) Y Yamashita et al.   ONCOGENE

An upregulation of DNA-methyltransferase 1 and 3a expressed in telencephalic GABAergic neurons of schizophrenia patients is also detected in peripheral blood lymphocytes

(2009) A. Zhubi et al.   SCHIZOPHRENIA RESEARCH