Concepedia

Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an <i>EFEMP2</i> Mutation

Maria Iascone, Maria Elena Sana, Laura Pezzoli, Paolo Bianchi, Daniela Marchetti, Giorgio Fasolini, Youcef Sadou, Anna Locatelli, Flavia Fabiani, Giovanna Mangili,

Circulation · 2012 · 23 citations · 4 references

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4

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim et al. · The American Journal of Human Genetics · 2006 · 304 citations · Full text

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Evaluation of the adolescent or adult with some features of Marfan syndrome

Reed E. Pyeritz · Genetics in Medicine · 2012 · 36 citations

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GAMES identifies and annotates mutations in next-generation sequencing projects

Maria Elena Sana, Maria Iascone, Daniela Marchetti et al. · Bioinformatics · 2010 · 31 citations · Full text

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