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

nork 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
Argitaratua 2012

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

nork 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
Argitaratua izan da Sci Signal (2018)

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

nork 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
Argitaratua izan da Eur J Hum Genet (2018)

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

nork 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
Argitaratua 2013