Extended spectrum of MBD5 mutations in neurodevelopmental disorders

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

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling et al. · The American Journal of Human Genetics · 2012 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

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

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz‐Depiereux et al. · The American Journal of Human Genetics · 2007 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Sophie Laget, Michael Joulie, Florent Masson et al. · PLoS ONE · 2010 · 109 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

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

Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld et al. · European Journal of Human Genetics · 2009 · 84 citations · Full text

Life Sciences, Neurology, Neuroscience +14