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

Dynamics of Setdb1 expression in early mouse development

(2012) Sunwha Cho et al.   GENE EXPRESSION PATTERNS

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

(2012) Anthony J. Griswold et al.   HUMAN MOLECULAR GENETICS

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

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

(2011) Brian H.Y. Chung et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21

(2011) Holly N. Cukier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

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

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

(2011) Grace J. Noh et al.   European Journal of Medical Genetics

Complexities of Rett Syndrome and MeCP2

(2011) R. C. Samaco et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

(2011) Daria Salyakina et al.   PLoS One

Adult Neural Function Requires MeCP2

(2011) C. M. McGraw et al.   SCIENCE

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

(2011) Rachel A. Myers et al.   PLoS Genetics

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Setdb1 Histone Methyltransferase Regulates Mood-Related Behaviors and Expression of the NMDA Receptor Subunit NR2B

(2010) Y. Jiang et al.   JOURNAL OF NEUROSCIENCE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Setdb1-mediated histone H3K9 hypermethylation in neurons worsens the neurological phenotype of Mecp2-deficient mice

(2010) Yan Jiang et al.   NEUROPHARMACOLOGY

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

(2010) Sophie Laget et al.   PLoS One

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

DNA methylation and methyl-CpG binding proteins: developmental requirements and function

(2009) Ozren Bogdanović et al.   CHROMOSOMA

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

(2009) Holly N. Cukier et al.   NEUROGENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits

(2008) A. M. Allan et al.   HUMAN MOLECULAR GENETICS

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

(2008) S Jaillard et al.   JOURNAL OF MEDICAL GENETICS

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database

(2008) Nicole C Allen et al.   NATURE GENETICS

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE