Concepedia

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch,

The American Journal of Human Genetics · 2012 · 267 citations · 22 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsEpigeneticsHuman GeneticsIntellectual DisabilitiesChromatinGenetic DisordersGenetic SyndromesHistone ProteinsIntellectual Disability GeneticsNeurodevelopmental GeneticsAutosomal Dominant Intellectual DisabilityAutosomal Recessive Intellectual DisabilityChromatin RemodelingChromatin Remodeling ComplexesIntellectual Disability AssociationIntellectual Disability Syndromes

References

22

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

Brian J. O’Roak, Pelagia Deriziotis, Choli Lee et al. · Nature Genetics · 2011 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

Life Sciences, Genetics, Molecular Genetics +12

A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

Social Sciences, Psychiatry, Psychology +12

Histone H2B Monoubiquitination Functions Cooperatively with FACT to Regulate Elongation by RNA Polymerase II

Rushad Pavri, Bing Zhu, Guohong Li et al. · Cell · 2006 · 714 citations · Full text

Life Sciences, Biology, Molecular Biology +14

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12