Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
New England Journal of MedicinePublished 3 October 2012Open access
Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes
Citations1,555
SJR quartileQ1
SJR score19.08
SNIP13.47
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TL;DR
De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
Abstract
De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection. (Funded by the European Union and others.).
Keywords
Biochemistry, Genetics and Molecular Biology
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