Hypoxia alters the epigenetic profile in cultured human placental trophoblasts

Por Yuen, Ryan K.C., Chen, Baosheng, Blair, John D., Robinson, Wendy P., Nelson, D. Michael
Publicado em 2013

The Database of Genomic Variants: a curated collection of structural variation in the human genome

Por MacDonald, Jeffrey R., Ziman, Robert, Yuen, Ryan K. C., Feuk, Lars, Scherer, Stephen W.
Publicado em 2014

Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity

Por Hu, Yuxiang, Blair, John D., Yuen, Ryan K.C., Robinson, Wendy P., von Dadelszen, Peter
Publicado no Mol Hum Reprod (2015)

Human Placental-Specific Epipolymorphism and its Association with Adverse Pregnancy Outcomes

Por Yuen, Ryan K. C., Avila, Luana, Peñaherrera, Maria S., von Dadelszen, Peter, Lefebvre, Louis, Kobor, Michael S., Robinson, Wendy P.
Publicado em 2009

Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum

Por Pang, Andy Wing Chun, MacDonald, Jeffrey R., Yuen, Ryan K. C., Hayes, Vanessa M., Scherer, Stephen W.
Publicado em 2013

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia

Por Blair, John D., Yuen, Ryan K.C., Lim, Brendan K., McFadden, Deborah E., von Dadelszen, Peter, Robinson, Wendy P.
Publicado em 2013

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

Por Woodbury-Smith, Marc, Nicolson, Rob, Zarrei, Mehdi, Yuen, Ryan K. C., Walker, Susan, Howe, Jennifer, Uddin, Mohammed, Hoang, Ny, Buchanan, Janet A., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
Publicado no NPJ Genom Med (2017)

The human splicing code reveals new insights into the genetic determinants of disease

Por Xiong, Hui Y., Alipanahi, Babak, Lee, Leo J., Bretschneider, Hannes, Merico, Daniele, Yuen, Ryan K.C., Hua, Yimin, Gueroussov, Serge, Najafabadi, Hamed S., Hughes, Timothy R., Morris, Quaid, Barash, Yoseph, Krainer, Adrian R., Jojic, Nebojsa, Scherer, Stephen W., Blencowe, Benjamin J., Frey, Brendan J.
Publicado no Science (2014)

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Por Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Publicado no Nat Commun (2015)

Hypermethylation of RASSF1A in Human and Rhesus Placentas

Por Chiu, Rossa W.K., Chim, Stephen S.C., Wong, Ivy H.N., Wong, Cesar S.C., Lee, Wing-Shan, To, Ka F., Tong, Joanna H.M., Yuen, Ryan K.C., Shum, Alisa S.W., Chan, John K.C., Chan, Lisa Y.S., Yuen, Jessie W.F., Tong, Yu K., Weier, Jingly F., Ferlatte, Christy, Leung, Tse N., Lau, Tze K., Lo, Kwok W., Lo, Y.M. Dennis
Publicado em 2007

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Por Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.
Publicado no Sci Rep (2016)

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Por Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.
Publicado em 2013

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

Por Lok, Si, Paton, Tara A., Wang, Zhuozhi, Kaur, Gaganjot, Walker, Susan, Yuen, Ryan K. C., Sung, Wilson W. L., Whitney, Joseph, Buchanan, Janet A., Trost, Brett, Singh, Naina, Apresto, Beverly, Chen, Nan, Coole, Matthew, Dawson, Travis J., Ho, Karen, Hu, Zhizhou, Pullenayegum, Sanjeev, Samler, Kozue, Shipstone, Arun, Tsoi, Fiona, Wang, Ting, Pereira, Sergio L., Rostami, Pirooz, Ryan, Carol Ann, Tong, Amy Hin Yan, Ng, Karen, Sundaravadanam, Yogi, Simpson, Jared T., Lim, Burton K., Engstrom, Mark D., Dutton, Christopher J., Kerr, Kevin C. R., Franke, Maria, Rapley, William, Wintle, Richard F., Scherer, Stephen W.
Publicado no G3 (Bethesda) (2017)

Rapporteur Summaries of Plenary, Symposia, and Oral sessions from the XXIII(rd) World Congress of Psychiatric Genetics Meeting in Toronto, Canada, October 16-20, 2015

Por Zai, Gwyneth, Alberry, Bonnie, Arloth, Janine, Bánlaki, Zsófia, Bares, Cristina, Boot, Erik, Camilo, Caroline, Chadha, Kartikay, Chen, Qi, Cole, Christopher B., Cost, Katherine Tombeau, Crow, Megan, Ekpor, Ibene, Fischer, Sascha B., Flatau, Laura, Gagliano, Sarah, Kirli, Umut, Kukshal, Prachi, Labrie, Viviane, Lang, Maren, Lett, Tristram A., Maffioletti, Elisabetta, Maier, Robert, Mihaljevic, Marina, Mittal, Kirti, Monson, Eric T., O'Brien, Niamh L., Østergaard, Søren Dinesen, Ovenden, Ellen, Patel, Sejal, Peterson, Roseann E., Pouget, Jennie G., Rovaris, Diego Luiz, Seaman, Lauren, Shankarappa, Bhagya, Tsetsos, Fotis, Vereczkei, Andrea, Wang, Chenyao, Xulu, Khethelo, Yuen, Ryan K. C., Zhao, Jingjing, Zai, Clement C., Kennedy, James L.
Publicado no Psychiatr Genet (2016)

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Por Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Publicado no NPJ Genom Med (2016)

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Por Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Publicado em 2014

Synaptic, transcriptional, and chromatin genes disrupted in autism

Por De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Cicek, A Ercument, Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas J., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Hill, R. Sean, Ionita-Laza, Iuliana, Gonzalez, Patricia Jimenez, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma'ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Willsey, A. Jeremy, Yu, Timothy W., Yuen, Ryan K.C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.
Publicado no Nature (2014)