VarRanker: rapid prioritization of sequence variations associated with human disease

por O'Fallon, Brendan D, Wooderchak-Donahue, Whitney, Bayrak-Toydemir, Pinar, Crockett, David
Publicado 2013

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

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

por McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A., Bayrak-Toydemir, Pinar
Publicado 2015

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

por Ruiz-Llorente, Lidia, McDonald, Jamie, Wooderchak-Donahue, Whitney, Briggs, Eric, Chesnutt, Mark, Bayrak-Toydemir, Pinar, Bernabeu, Carmelo
Publicado 2019

Potential Utility of Pre-Emptive Germline Pharmacogenetics in Breast Cancer

por Bernard, Philip S., Wooderchak-Donahue, Whitney, Wei, Mei, Bray, Steven M., Wood, Kevin C., Parikh, Baiju, McMillin, Gwendolyn A.
Publicado 2021

Genetic Variants Associated with Port-Wine Stains

por Frigerio, Alice, Wright, Karol, Wooderchak-Donahue, Whitney, Tan, Oon T., Margraf, Rebecca, Stevenson, David A., Grimmer, J. Fredrik, Bayrak-Toydemir, Pinar
Publicado 2015

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

por Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar
Publicado 2020

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

por Damjanovich, Kristy, Langa, Carmen, Blanco, Francisco J, McDonald, Jamie, Botella, Luisa M, Bernabeu, Carmelo, Wooderchak-Donahue, Whitney, Stevenson, David A, 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

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

por Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.
Publicado 2021