MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

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

(2013) Sureni V Mullegama et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Cognitive dysfunction, elevated anxiety, and reduced cocaine response in circadian clock-deficient cryptochrome knockout mice

(2013) Dimitri De Bundel et al.   Frontiers in Behavioral Neuroscience

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

(2012) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rev-erb  and Rev-erb  coordinately protect the circadian clock and normal metabolic function

(2012) A. Bugge et al.   GENES & DEVELOPMENT

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

(2012) C. A. Hoeffer et al.   GENES BRAIN AND BEHAVIOR

Sleep in Children With Autism Spectrum Disorder

(2012) Suresh Kotagal et al.   PEDIATRIC NEUROLOGY

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

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

(2011) Philip M. Boone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Circadian regulation of mammalian target of rapamycin signaling in the mouse suprachiasmatic nucleus

(2011) R. Cao et al.   NEUROSCIENCE

Sleep and Synaptic Homeostasis: Structural Evidence in Drosophila

(2011) D. Bushey et al.   SCIENCE

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

(2010) Brooke Burns et al.   HUMAN MOLECULAR GENETICS

Mammalian Target of Rapamycin Signaling Modulates Photic Entrainment of the Suprachiasmatic Circadian Clock

(2010) R. Cao et al.   JOURNAL OF NEUROSCIENCE

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

A functional network module for Smith-Magenis syndrome

(2009) S Girirajan et al.   CLINICAL 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

Circadian rhythms and sleep in children with autism

(2009) Gena Glickman   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Fragile X-Related Proteins Regulate Mammalian Circadian Behavioral Rhythms

(2008) Jing Zhang et al.   AMERICAN 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