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Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Anneke T. Vulto‐van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, Nina De Rocker, Kathryn J. Newhall, Ramya Raghavan, Sara Reardon, Kelsey E. Jarrett, Tara McIntyre,

The American Journal of Human Genetics · 2014 · 68 citations · 41 references

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41

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Kenneth J. Livak, Thomas D. Schmittgen · Methods · 2001 · 181.5K citations

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Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

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Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K citations · Full text

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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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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations

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