Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

(2012) Mitsuo Motobayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Expanding Role of MBD Genes in Autism: Identification of aMECP2Duplication and Novel Alterations inMBD5,MBD6, andSETDB1

(2012) Holly N. Cukier et al.   Autism Research

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

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

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

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe intellectual disability and autistic features associated with microduplication 2q23.1

(2011) Brian HY Chung et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smith–Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

(2011) Sarah H. Elsea et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

(2010) Jonathan S. Berg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Partial trisomy 2q

(2010) Robert E. Schumacher et al.   CLINICAL GENETICS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

The Human Proteins MBD5 and MBD6 Associate with Heterochromatin but They Do Not Bind Methylated DNA

(2010) Sophie Laget et al.   PLoS One

A functional network module for Smith-Magenis syndrome

(2009) S Girirajan et al.   CLINICAL GENETICS

CNV and nervous system diseases – what’s new?

(2009) W. Gu et al.   CYTOGENETIC AND GENOME RESEARCH

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE