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

著者: 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
出版事項 2012

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

著者: 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
出版年 Sci Signal (2018)

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

著者: 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
出版年 Eur J Hum Genet (2018)

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

著者: 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
出版事項 2013