A method for accurate detection of genomic microdeletions using real-time quantitative PCR

by Weksberg, Rosanna, Hughes, Simon, Moldovan, Laura, Bassett, Anne S, Chow, Eva WC, Squire, Jeremy A
Published 2005

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray

by Hayeems, Robin Z, Hoang, Ny, Chenier, Sebastien, Stavropoulos, Dimitri J, Pu, Shuye, Weksberg, Rosanna, Shuman, Cheryl
Published 2015

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

by Cheung, Aaron Y.L., Horvath, Lindsay M., Grafodatskaya, Daria, Pasceri, Peter, Weksberg, Rosanna, Hotta, Akitsu, Carrel, Laura, Ellis, James
Published 2011

Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

by Chen, Yi-an, Lemire, Mathieu, Choufani, Sanaa, Butcher, Darci T., Grafodatskaya, Daria, Zanke, Brent W., Gallinger, Steven, Hudson, Thomas J., Weksberg, Rosanna
Published 2013

Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction

by Roifman, Maian, Choufani, Sanaa, Turinsky, Andrei L., Drewlo, Sascha, Keating, Sarah, Brudno, Michael, Kingdom, John, Weksberg, Rosanna
Published 2016

Clinically relevant copy number variations detected in cerebral palsy

by Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.
Published 2015

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

by Grafodatskaya, Daria, Chung, Barian HY, Butcher, Darci T, Turinsky, Andrei L, Goodman, Sarah J, Choufani, Sana, Chen, Yi-An, Lou, Youliang, Zhao, Chunhua, Rajendram, Rageen, Abidi, Fatima E, Skinner, Cindy, Stavropoulos, James, Bondy, Carolyn A, Hamilton, Jill, Wodak, Shoshana, Scherer, Stephen W, Schwartz, Charles E, Weksberg, Rosanna
Published 2013

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

by Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas
Published 2016

Maternal vitamin D supplementation during pregnancy and lactation to promote infant growth in Dhaka, Bangladesh (MDIG trial): study protocol for a randomized controlled trial

by Roth, Daniel E., Gernand, Alison D., Morris, Shaun K., Pezzack, Brendon, Islam, M. Munirul, Dimitris, Michelle C., Shanta, Shaila S., Zlotkin, Stanley H., Willan, Andrew R., Ahmed, Tahmeed, Shah, Prakesh S., Murphy, Kellie E., Weksberg, Rosanna, Choufani, Sanaa, Shah, Rashed, Al Mahmud, Abdullah
Published 2015

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

by Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Published 2012

Genome-wide characteristics of de novo mutations in autism

by Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
Published 2016