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Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Anna Morgan, Ilaria Gandin, Chiara Belcaro, Pietro Palumbo, Orazio Palumbo, Elisa Biamino, Valentina Dal Col, Erik Laurini, Sabrina Pricl, Paolo Bosco,

Mutation research. Fundamental and molecular mechanisms of mutagenesis · 2015 · 10 citations · 18 references

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18

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.8K citations

, , +17

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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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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