Concepedia

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, Giovanna Lattanzi, Yskert Von Kodolitsch, Andreas Perrot, Elisa Di Pasquale, Laura Papa, Paola Portararo, Marta Columbaro,

European Journal of Human Genetics · 2013 · 97 citations · 37 references

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37

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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Primer3Plus, an enhanced web interface to Primer3

Andreas Untergasser, Harm Nijveen, Xiancai Rao et al. · Nucleic Acids Research · 2007 · 2.9K citations · Full text

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Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

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Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

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