Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Por Shyr, Casper, Kushniruk, Andre, van Karnebeek, Clara D.M., Wasserman, Wyeth W.
Publicado no J Am Med Inform Assoc (2016)

FLAGS, frequently mutated genes in public exomes

Por Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica JY, van Karnebeek, Clara, Wasserman, Wyeth W
Publicado no BMC Med Genomics (2014)

Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions

Por Amstutz, Ursula, Shyr, Casper, Shear, Neil H, Rieder, Michael J, Wasserman, Wyeth W, Ross, Colin J, Carleton, Bruce C
Publicado em 2014

Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis

Por Malhotra, Deepti, Portales-Casamar, Elodie, Singh, Anju, Srivastava, Siddhartha, Arenillas, David, Happel, Christine, Shyr, Casper, Wakabayashi, Nobunao, Kensler, Thomas W., Wasserman, Wyeth W., Biswal, Shyam
Publicado em 2010

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Por Bourne, Stephanie C., Townsend, Katelin N., Shyr, Casper, Matthews, Allison, Lear, Scott A., Attariwala, Raj, Lehman, Anna, Wasserman, Wyeth W., van Karnebeek, Clara, Sinclair, Graham, Vallance, Hilary, Gibson, William T.
Publicado no Cold Spring Harb Mol Case Stud (2017)

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado em 2014

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Por Janer, Alexandre, van Karnebeek, Clara DM, Sasarman, Florin, Antonicka, Hana, Al Ghamdi, Malak, Shyr, Casper, Dunbar, Mary, Stockler-Ispiroglu, Sylvia, Ross, Colin J, Vallance, Hilary, Dionne, Janis, Wasserman, Wyeth W, Shoubridge, Eric A
Publicado no Eur J Hum Genet (2015)

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles

Por Mathelier, Anthony, Fornes, Oriol, Arenillas, David J., Chen, Chih-yu, Denay, Grégoire, Lee, Jessica, Shi, Wenqiang, Shyr, Casper, Tan, Ge, Worsley-Hunt, Rebecca, Zhang, Allen W., Parcy, François, Lenhard, Boris, Sandelin, Albin, Wasserman, Wyeth W.
Publicado no Nucleic Acids Res (2016)

The genotypic and phenotypic spectrum of PIGA deficiency

Por Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara DM
Publicado no Orphanet J Rare Dis (2015)

JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles

Por Mathelier, Anthony, Zhao, Xiaobei, Zhang, Allen W., Parcy, François, Worsley-Hunt, Rebecca, Arenillas, David J., Buchman, Sorana, Chen, Chih-yu, Chou, Alice, Ienasescu, Hans, Lim, Jonathan, Shyr, Casper, Tan, Ge, Zhou, Michelle, Lenhard, Boris, Sandelin, Albin, Wasserman, Wyeth W.
Publicado em 2014

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

Por Stockler, Sylvia, Corvera, Silvia, Lambright, David, Fogarty, Kevin, Nosova, Ekaterina, Leonard, Deborah, Steinfeld, Robert, Ackerley, Cameron, Shyr, Casper, Au, Nicolas, Selby, Kathrin, van Allen, Margot, Vallance, Hilary, Wevers, Ron, Watkins, David, Rosenblatt, David, Ross, Colin J, Conibear, Elizabeth, Wasserman, Wyeth, van Karnebeek, Clara
Publicado em 2014

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Por Sirrs, Sandra, van Karnebeek, Clara DM, Peng, Xiaoxue, Shyr, Casper, Tarailo-Graovac, Maja, Mandal, Rupasri, Testa, Daniel, Dubin, Devin, Carbonetti, Gregory, Glynn, Steven E, Sayson, Bryan, Robinson, Wendy P, Han, Beomsoo, Wishart, David, Ross, Colin J, Wasserman, Wyeth W, Hurwitz, Trevor A, Sinclair, Graham, Kaczocha, Martin
Publicado no Orphanet J Rare Dis (2015)

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Por van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virginie, Newlove, Theresa, Ukpeh, Henry, Chakrapani, Anupam, Preece, Mary Anne, Ball, Sarah, Pitt, James, Vallance, Hilary D., Coulter-Mackie, Marion, Nguyen, Hien, Zhang, Lin-Hua, Bhavsar, Amit P., Sinclair, Graham, Waheed, Abdul, Wasserman, Wyeth W., Stockler-Ipsiroglu, Sylvia
Publicado em 2014