De novo mutations in histone-modifying genes in congenital heart disease

The Congenital Heart Disease Genetic Network Study

(2013) et al.   CIRCULATION RESEARCH

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Ali Shilatifard   Annual Review of Biochemistry

A Temporal Chromatin Signature in Human Embryonic Stem Cells Identifies Regulators of Cardiac Development

(2012) Sharon L. Paige et al.   CELL

Dynamic and Coordinated Epigenetic Regulation of Developmental Transitions in the Cardiac Lineage

(2012) Joseph A. Wamstad et al.   CELL

RNF20 and USP44 Regulate Stem Cell Differentiation by Modulating H2B Monoubiquitylation

(2012) Gilad Fuchs et al.   MOLECULAR CELL

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

(2012) Mark Sausen et al.   NATURE GENETICS

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

(2012) Jacob A.S. Vorstman et al.   SCHIZOPHRENIA RESEARCH

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

(2011) Craig J. Ceol et al.   NATURE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Nodal Signaling Recruits the Histone Demethylase Jmjd3 to Counteract Polycomb-Mediated Repression at Target Genes

(2010) O. Dahle et al.   Science Signaling

Histone demethylases in development and disease

(2010) Marianne Terndrup Pedersen et al.   TRENDS IN CELL BIOLOGY

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005

(2008) Mark D. Reller et al.   JOURNAL OF PEDIATRICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE