Empowered genome community: leveraging a bioinformatics platform as a citizen–scientist collaboration tool

por Wendelsdorf, Katherine, Shah, Sohela
Publicado 2015

Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases

por Krämer, Andreas, Shah, Sohela, Rebres, Robert Anthony, Tang, Susan, Richards, Daniel Rene
Publicado 2017

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

por Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Publicado 2013

Strain Background Modifies Phenotypes in the ATP8B1-Deficient Mouse

por Shah, Sohela, Sanford, Ukina R., Vargas, Julie C., Xu, Hongmei, Groen, Annamiek, Paulusma, Coen C., Grenert, James P., Pawlikowska, Ludmila, Sen, Saunak, Elferink, Ronald P. J. Oude, Bull, Laura N.
Publicado 2010

Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping

por Bull, Laura N., Hu, Donglei, Shah, Sohela, Temple, Luisa, Silva, Karla, Huntsman, Scott, Melgar, Jennifer, Geiser, Mary T., Sanford, Ukina, Ortiz, Juan A., Lee, Richard H., Kusanovic, Juan P., Ziv, Elad, Vargas, Juan E.
Publicado 2015

Assessment of SLX4 Mutations in Hereditary Breast Cancers

por Shah, Sohela, Kim, Yonghwan, Ostrovnaya, Irina, Murali, Rajmohan, Schrader, Kasmintan A., Lach, Francis P., Sarrel, Kara, Rau-Murthy, Rohini, Hansen, Nichole, Zhang, Liyng, Kirchhoff, Tomas, Stadler, Zsofia, Robson, Mark, Vijai, Joseph, Offit, Kenneth, Smogorzewska, Agata
Publicado 2013

Susceptibility Loci Associated with Specific and Shared Subtypes of Lymphoid Malignancies

por Vijai, Joseph, Kirchhoff, Tomas, Schrader, Kasmintan A., Brown, Jennifer, Dutra-Clarke, Ana Virginia, Manschreck, Christopher, Hansen, Nichole, Rau-Murthy, Rohini, Sarrel, Kara, Przybylo, Jennifer, Shah, Sohela, Cheguri, Srujana, Stadler, Zsofia, Zhang, Liying, Paltiel, Ora, Ben-Yehuda, Dina, Viale, Agnes, Portlock, Carol, Straus, David, Lipkin, Steven M., Lacher, Mortimer, Robson, Mark, Klein, Robert J., Zelenetz, Andrew, Offit, Kenneth
Publicado 2013

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

por Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B. L., Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Hansen, Thomas v. O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M. W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G. E. M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E., Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, Marjanka K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, Maartje J., Cox, Angela, Pharoah, Paul D. P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth
Publicado 2013