Concepedia

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

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Rosello,

European Journal of Human Genetics · 2013 · 86 citations · 15 references

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15

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan et al. · Nature · 2012 · 2.2K citations · Full text

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Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

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Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Edwin H. Cook, V Lindgren, Bennett Leventhal et al. · PubMed · 1997 · 650 citations

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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 600 citations · Full text

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Feng Zhang, Mehrdad Khajavi, Anne M. Connolly et al. · Nature Genetics · 2009 · 531 citations · Full text

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