A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom +51 more·2010·Nature Genetics
DOI 10.1038/ng.534

Cited by (668)

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  21. Copy Number Variants: Mapping the Genome’s ‘Land Mines’
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    2011 · Current Opinion in Neurology
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    Danielle S. Rudd · 2014
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    Saskia M. J. Hopman · 2014 · Data Archiving and Networked Services (DANS)
  73. Heterogeneity in genomic disorders
    Pamela Feliciano · 2012 · Nature Genetics
  74. Late Breaking Chromosomes
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  76. Large structural polymorphisms predispose genomic sequences to disease-causing rearrangements
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  77. From Single Locus Mendelian Syndromes to Multilocus Genetic-Epigenetic Networks in Human Genetics
    Martin Poot · 2013 · Molecular Syndromology
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  79. Segmental Duplications: A Source of Diversity, Evolution and Disease
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