Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue, Whitney L., Akay, Gulsen, Whitehead, Kevin, Briggs, Eric, Stevenson, David A., O’Fallon, Brendan, Velinder, Matthew, Farrell, Andrew, Shen, Wei, Bedoukian, Emma, Skrabann, Cara M., Antaya, Richard J., Henderson, Kate, Pollak, Jeffrey, Treat, James, Day, Ronald, Jacher, Joseph E., Hannibal, Mark, Bontempo, Kelly, Marth, Gabor, Bayrak-Toydemir, Pinar, McDonald, Jamie
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
Get full text
Journal Article
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
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
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
Get full text
Journal Article
The genomic and phenotypic diversity of Schizosaccharomyces pombe
Jeffares, Daniel C, Rallis, Charalampos, Rieux, Adrien, Speed, Doug, Převorovský, Martin, Mourier, Tobias, Marsellach, Francesc X, Iqbal, Zamin, Lau, Winston, Cheng, Tammy M K, Pracana, Rodrigo, Mülleder, Michael, Lawson, Jonathan L D, Chessel, Anatole, Bala, Sendu, Hellenthal, Garrett, O'Fallon, Brendan, Keane, Thomas, Simpson, Jared T, Bischof, Leanne, Tomiczek, Bartlomiej, Bitton, Danny A, Sideri, Theodora, Codlin, Sandra, Hellberg, Josephine E E U, van Trigt, Laurent, Jeffery, Linda, Li, Juan-Juan, Atkinson, Sophie, Thodberg, Malte, Febrer, Melanie, McLay, Kirsten, Drou, Nizar, Brown, William, Hayles, Jacqueline, Salas, Rafael E Carazo, Ralser, Markus, Maniatis, Nikolas, Balding, David J, Balloux, Francois, Durbin, Richard, Bähler, Jürg
Published in Nature genetics (01.03.2015)
Published in Nature genetics (01.03.2015)
Get full text
Journal Article
P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing
Pizzo, Lucilla, Lewis, Tracey, Bolia, Ashini, O'Fallon, Brendan, Andersen, Erica, Best, Hunter
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
A continuous-state coalescent and the impact of weak selection on the structure of gene genealogies
O'Fallon, Brendan D, Seger, Jon, Adler, Frederick R
Published in Molecular biology and evolution (01.05.2010)
Published in Molecular biology and evolution (01.05.2010)
Get full text
Journal Article
Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files
Ebbert, Mark T W, Wadsworth, Mark E, Boehme, Kevin L, Hoyt, Kaitlyn L, Sharp, Aaron R, O'Fallon, Brendan D, Kauwe, John S K, Ridge, Perry G
Published in BMC bioinformatics (2014)
Published in BMC bioinformatics (2014)
Get full text
Journal Article
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
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
Published in BMC medical genomics (14.11.2012)
Published in BMC medical genomics (14.11.2012)
Get full text
Journal Article
Generative haplotype prediction outperforms statistical methods for small variant detection in next-generation sequencing data
O’Fallon, Brendan, Bolia, Ashini, Durtschi, Jacob, Yang, Luobin, Fredrickson, Eric, Best, Hunter
Published in Bioinformatics (Oxford, England) (01.11.2024)
Published in Bioinformatics (Oxford, England) (01.11.2024)
Get full text
Journal Article