Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

por Furtado, Larissa V, Wooderchak-Donahue, Whitney, Rope, Alan F, Yetman, Angela T, Lewis, Tracey, Plant, Parker, Bayrak-Toydemir, Pinar
Publicado 2011

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

por Wooderchak-Donahue, Whitney L, O’Fallon, Brendan, Furtado, Larissa V, Durtschi, Jacob D, Plant, Parker, Ridge, Perry G, Rope, Alan F, Yetman, Angela T, Bayrak-Toydemir, Pinar
Publicado 2012