Inherited 2q23.1 microdeletions involving the MBD5 locus

Erratum: Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

(2016) Sureni V Mullegama et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

(2014) V. Camarena et al.   EMBO Molecular Medicine

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

(2014) Sureni V Mullegama et al.   Molecular Cytogenetics

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

(2013) Céline Bonnet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

(2013) J C Hodge et al.   MOLECULAR PSYCHIATRY

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

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