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 em 2012

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia

Por Jiang, Xuan, Wooderchak-Donahue, Whitney L., McDonald, Jamie, Ghatpande, Prajakta, Baalbaki, Mai, Sandoval, Melissa, Hart, Daniel, Clay, Hilary, Coughlin, Shaun, Lagna, Giorgio, Bayrak-Toydemir, Pinar, Hata, Akiko
Publicado no Sci Signal (2018)

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Por Wooderchak-Donahue, Whitney L., Johnson, Peter, McDonald, Jamie, Blei, Francine, Berenstein, Alejandro, Sorscher, Michelle, Mayer, Jennifer, Scheuerle, Angela E., Lewis, Tracey, Grimmer, J. Fredrik, Richter, Gresham T., Steeves, Marcie A., Lin, Angela E., Stevenson, David A., Bayrak-Toydemir, Pinar
Publicado no Eur J Hum Genet (2018)

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Por Wooderchak-Donahue, Whitney L., McDonald, Jamie, O’Fallon, Brendan, Upton, Paul D., Li, Wei, Roman, Beth L., Young, Sarah, Plant, Parker, Fülöp, Gyula T., Langa, Carmen, Morrell, Nicholas W., Botella, Luisa M., Bernabeu, Carmelo, Stevenson, David A., Runo, James R., Bayrak-Toydemir, Pinar
Publicado em 2013