Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences

por Gall-Duncan, Terence, Sato, Nozomu, Yuen, Ryan K.C., Pearson, Christopher E.
Publicado 2022

Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome

por Ying, Shengjie, Heung, Tracy, Zhang, Zhaolei, Yuen, Ryan K. C., Bassett, Anne S.
Publicado 2022

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 2014

Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation

por Peñaherrera, M.S., Jiang, R., Avila, L., Yuen, R.K.C., Brown, C.J., Robinson, W.P.
Publicado 2012

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 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 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 2013

Polygenic risk for triglyceride levels in the presence of a high impact rare variant

por Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A., Yuen, Ryan K. C., Bassett, Anne S.
Publicado 2023

Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant

por Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A., Yuen, Ryan K. C., Bassett, Anne S.
Publicado 2023

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

por Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Publicado 2021

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

por 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.
Publicado 2021

Genomic imbalances in the placenta are associated with poor fetal growth

por 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.
Publicado 2021

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 2017

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

por 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.
Publicado 2019

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

por 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
Publicado 2018

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

por 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.
Publicado 2017

Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox–Gastaut syndrome

por Qaiser, Farah, Sadoway, Tara, Yin, Yue, Zulfiqar Ali, Quratulain, Nguyen, Charlotte M, Shum, Natalie, Backstrom, Ian, Marques, Paula T, Tabarestani, Sepideh, Munhoz, Renato P, Krings, Timo, Pearson, Christopher E, Yuen, Ryan K C, Andrade, Danielle M
Publicado 2021

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

por 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
Publicado 2017

Genome-wide tandem repeat expansions contribute to schizophrenia risk

por Mojarad, Bahareh A., Engchuan, Worrawat, Trost, Brett, Backstrom, Ian, Yin, Yue, Thiruvahindrapuram, Bhooma, Pallotto, Linda, Mitina, Aleksandra, Khan, Mahreen, Pellecchia, Giovanna, Haque, Bushra, Guo, Keyi, Heung, Tracy, Costain, Gregory, Scherer, Stephen W., Marshall, Christian R., Pearson, Christopher E., Bassett, Anne S., Yuen, Ryan K. C.
Publicado 2022

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 2015