Hypoxia alters the epigenetic profile in cultured human placental trophoblasts

অনুযায়ী Yuen, Ryan K.C., Chen, Baosheng, Blair, John D., Robinson, Wendy P., Nelson, D. Michael
প্রকাশিত 2013

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

অনুযায়ী MacDonald, Jeffrey R., Ziman, Robert, Yuen, Ryan K. C., Feuk, Lars, Scherer, Stephen W.
প্রকাশিত 2014

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

অনুযায়ী Hu, Yuxiang, Blair, John D., Yuen, Ryan K.C., Robinson, Wendy P., von Dadelszen, Peter
প্রকাশিত Mol Hum Reprod (2015)

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

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

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

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

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

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

Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors

অনুযায়ী Novakovic, Boris, Yuen, Ryan K, Gordon, Lavinia, Penaherrera, Maria S, Sharkey, Andrew, Moffett, Ashley, Craig, Jeffrey M, Robinson, Wendy P, Saffery, Richard
প্রকাশিত 2011

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

অনুযায়ী Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
প্রকাশিত Orphanet J Rare Dis (2021)

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

অনুযায়ী Mojarad, Bahareh A., Yin, Yue, Manshaei, Roozbeh, Backstrom, Ian, Costain, Gregory, Heung, Tracy, Merico, Daniele, Marshall, Christian R., Bassett, Anne S., Yuen, Ryan K. C.
প্রকাশিত Transl Psychiatry (2021)

Genomic imbalances in the placenta are associated with poor fetal growth

অনুযায়ী Del Gobbo, Giulia F., Yin, Yue, Choufani, Sanaa, Butcher, Emma A., Wei, John, Rajcan-Separovic, Evica, Bos, Hayley, von Dadelszen, Peter, Weksberg, Rosanna, Robinson, Wendy P., Yuen, Ryan K. C.
প্রকাশিত Mol Med (2021)

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

অনুযায়ী 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.
প্রকাশিত NPJ Genom Med (2017)

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

অনুযায়ী Chan, Ada J. S., Cytrynbaum, Cheryl, Hoang, Ny, Ambrozewicz, Patricia M., Weksberg, Rosanna, Drmic, Irene, Ritzema, Anne, Schachar, Russell, Walker, Susan, Uddin, Mohammed, Zarrei, Mehdi, Yuen, Ryan K. C., Scherer, Stephen W.
প্রকাশিত NPJ Genom Med (2019)

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

অনুযায়ী Woodbury-Smith, Marc, Paterson, Andrew D., O’Connor, Irene, Zarrei, Mehdi, Yuen, Ryan K. C., Howe, Jennifer L, Thompson, Ann, Parlier, Morgan, Fernandez, Bridget, Piven, Joseph, Scherer, Stephen W., Vieland, Veronica, Szatmari, Peter
প্রকাশিত J Neurodev Disord (2018)

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

অনুযায়ী Woodbury-Smith, Marc, Deneault, Eric, Yuen, Ryan K. C., Walker, Susan, Zarrei, Mehdi, Pellecchia, Giovanna, Howe, Jennifer L., Hoang, Ny, Uddin, Mohammed, Marshall, Christian R., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
প্রকাশিত Mol Autism (2017)

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

অনুযায়ী 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.
প্রকাশিত Science (2014)

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

অনুযায়ী Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
প্রকাশিত Am J Hum Genet (2018)

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

অনুযায়ী Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
প্রকাশিত Neurol Genet (2017)

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

অনুযায়ী 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.
প্রকাশিত Nat Commun (2015)

Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS

অনুযায়ী Ross, P. Joel, Zhang, Wen-Bo, Mok, Rebecca S.F., Zaslavsky, Kirill, Deneault, Eric, D’Abate, Lia, Rodrigues, Deivid C., Yuen, Ryan K.C., Faheem, Muhammad, Mufteev, Marat, Piekna, Alina, Wei, Wei, Pasceri, Peter, Landa, Rebecca J., Nagy, Andras, Varga, Balazs, Salter, Michael W., Scherer, Stephen W., Ellis, James
প্রকাশিত Biol Psychiatry (2019)

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

অনুযায়ী Wright, Galen E.B., Collins, Jennifer A., Kay, Chris, McDonald, Cassandra, Dolzhenko, Egor, Xia, Qingwen, Bečanović, Kristina, Drögemöller, Britt I., Semaka, Alicia, Nguyen, Charlotte M., Trost, Brett, Richards, Fiona, Bijlsma, Emilia K., Squitieri, Ferdinando, Ross, Colin J.D., Scherer, Stephen W., Eberle, Michael A., Yuen, Ryan K.C., Hayden, Michael R.
প্রকাশিত Am J Hum Genet (2019)