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

di 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
Pubblicazione 2012

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

di 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
Pubblicato in Sci Signal (2018)

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

di 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
Pubblicato in Eur J Hum Genet (2018)

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

di 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
Pubblicazione 2013