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Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication Adele, Rabiat; Hussein, Rowaida; Tavares, Erika; Ahmed, Kashif; Di Scipio, Matteo; Charish, Jason; Liang, Minggao; Monis, Simon; Tumber, Anupreet; Chen, Xiaoyan; Paton, Tara A.; Roslin, Nicole M.; Eileen, Christabel; Ivakine, Evgueni; Sunny, Nishanth E.; Wilson, Michael D.; Campos, Eric; Rajala, Raju V. S.; Maynes, Jason T.; Monnier, Philippe P.; Paterson, Andrew D.; Heon, Elise; Vincent, Ajoy 分享 收藏
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Trans-ancestry meta-analysis of genome wide association studies of inhibitory control Arnatkeviciute, Aurina; Lemire, Mathieu; Morrison, Claire; Mooney, Michael; Ryabinin, Peter; Roslin, Nicole M.; Nikolas, Molly; Coxon, James; Tiego, Jeggan; Hawi, Ziarih; Fornito, Alex; Henrik, Walter; Martinot, Jean-Luc; Martinot, Marie-Laure Paillere; Artiges, Eric; Garavan, Hugh; Nigg, Joel; Friedman, Naomi P.; Burton, Christie; Schachar, Russell; Crosbie, Jennifer; Bellgrove, Mark A. 分享 收藏
Gene copy number variation and pediatric mental health/neurodevelopment in a general population 一般人群的基因拷贝数变异和儿科精神卫生/神经发育 Zarrei, Mehdi; Burton, Christie L.; Engchuan, Worrawat; Higginbotham, Edward J.; Wei, John; Shaikh, Sabah; Roslin, Nicole M.; MacDonald, Jeffrey R.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Yuen, Ryan K. C.; Wintle, Richard F.; Strug, Lisa J.; Stavropoulos, Dimitri J.; Vorstman, Jacob A. S.; Arnold, Paul; Merico, Daniele; Woodbury-Smith, Marc; Crosbie, Jennifer; Schachar, Russell J.; Scherer, Stephen W. 分享 收藏
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses Singh, Sushma; Penney, Cindy; Griffin, Anne; Woodland, Geoffrey; Werdyani, Salem; Benteau, Tammy A. A.; Abdelfatah, Nelly; Squires, Jessica; King, Beverly; Houston, Jim; Dyer, Matthew J.; Roslin, Nicole M. M.; Vincent, Daniel; Marquis, Pascale; O'Rielly, Darren D. D.; Hodgkinson, Kathy; Burt, Taylor; Baker, Ashley; Stanton, Susan G. G.; Young, Terry-Lynn 分享 收藏
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene Pater, Justin A.; Penney, Cindy; O'Rielly, Darren D.; Griffin, Anne; Kamal, Lara; Brownstein, Zippora; Vona, Barbara; Vinkler, Chana; Shohat, Mordechai; Barel, Ortal; French, Curtis R.; Singh, Sushma; Werdyani, Salem; Burt, Taylor; Abdelfatah, Nelly; Houston, Jim; Doucette, Lance P.; Squires, Jessica; Glaser, Fabian; Roslin, Nicole M.; Vincent, Daniel; Marquis, Pascale; Woodland, Geoffrey; Benoukraf, Touati; Hawkey-Noble, Alexia; Avraham, Karen B.; Stanton, Susan G.; Young, Terry-Lynn 分享 收藏
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region Ye, Xin (Cynthia); Roslin, Nicole M.; Paterson, Andrew D.; Lyons, Christopher J.; Pegado, Victor; Richmond, Phillip; Shyr, Casper; Fornes, Oriol; Han, XiaoHua; Higginson, Michelle; Ross, Colin J.; Giaschi, Deborah; Gregory-Evans, Cheryl; Patel, Millan S.; Wasserman, Wyeth W. 分享 收藏
X-Linked Glomerulopathy Due to COL4A5 Founder Variant Barua, Moumita; John, Rohan; Stella, Lorenzo; Li, Weili; Roslin, Nicole M.; Sharif, Bedra; Hack, Saidah; Lajoie-Starkell, Ginette; Schwaderer, Andrew L.; Becknell, Brian; Wuttke, Matthias; Koettgen, Anna; Cattran, Daniel; Paterson, Andrew D.; Pei, York 分享 收藏
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression Evans, Daniel R.; Green, Jane S.; Johnson, Gordon J.; Schwartzentruber, Jeremy; Majewski, Jacek; Beaulieu, Chandree L.; Qin, Wen; Marshall, Christian R.; Paton, Tara A.; Roslin, Nicole M.; Paterson, Andrew D.; Fahiminiya, Somayyeh; French, Justin; Boycott, Kym M.; Woods, Michael O. 分享 收藏
Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia Sung, L.; Dix, D.; Cellot, S.; Gillmeister, B.; Ethier, M. C.; Roslin, N. M.; Johnston, D. L.; Feusner, J.; Mitchell, D.; Lewis, V.; Aplenc, R.; Yanofsky, R.; Portwine, C.; Price, V.; Zelcer, S.; Silva, M.; Bowes, L.; Michon, B.; Stobart, K.; Traubici, J.; Allen, U.; Beyene, J.; den Hollander, N.; Paterson, A. D. 分享 收藏
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease Hwang, Young-Hwan; Conklin, John; Chan, Winnie; Roslin, Nicole M.; Liu, Jannel; He, Ning; Wang, Kairong; Sundsbak, Jamie L.; Heyer, Christina M.; Haider, Masoom; Paterson, Andrew D.; Harris, Peter C.; Pei, York 分享 收藏
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia Jobling, Rebekah K.; Assoum, Mirna; Gakh, Oleksandr; Blaser, Susan; Raiman, Julian A.; Mignot, Cyril; Roze, Emmanuel; Duerr, Alexandra; Brice, Alexis; Levy, Nicolas; Prasad, Chitra; Paton, Tara; Paterson, Andrew D.; Roslin, Nicole M.; Marshall, Christian R.; Desvignes, Jean-Pierre; Roeckel-Trevisiol, Nathalie; Scherer, Stephen W.; Rouleau, Guy A.; Megarbane, Andre; Isaya, Grazia; Delague, Valerie; Yoon, Grace 分享 收藏
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium Vincent, Ajoy; Forster, Nicole; Maynes, Jason T.; Paton, Tara A.; Billingsley, Gail; Roslin, Nicole M.; Ali, Arfan; Sutherland, Joanne; Wright, Tom; Westall, Carol A.; Paterson, Andrew D.; Marshall, Christian R.; Heon, Elise 分享 收藏
Exome Sequencing Identifies a Novel Variant in ACTC1 Associated With Familial Atrial Septal Defect Greenway, Steven C.; McLeod, Ross; Hume, Stacey; Roslin, Nicole M.; Alvarez, Nanette; Giuffre, Michael; Zhan, Shing H.; Shen, Yaoqing; Preuss, Christoph; Andelfinger, Gregor; Jones, Steven J. M.; Gerull, Brenda 分享 收藏
High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis Rahman, Proton; Roslin, Nicole M.; Pellett, Fawnda J.; Lemire, Mathieu; Greenwood, Celia M. T.; Beyene, Joseph; Pope, Angela; Peddle, Lynette; Paterson, Andrew D.; Uddin, Mohammed; Gladman, Dafna D. 分享 收藏
Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population Engert, James C.; Lemire, Mathieu; Faith, Janet; Brisson, Diane; Fujiwara, T. Mary; Roslin, Nicole M.; Brewer, Carl G.; Montpetit, Alexandre; Darmond-Zwaig, Corinne; Renaud, Yannick; Dore, Carole; Bailey, Swneke D.; Verner, Andrei; Tremblay, Gerald; St-Pierre, Julie; Betard, Christine; Platko, Jill; Rioux, John D.; Morgan, Kenneth; Hudson, Thomas J.; Gaudet, Daniel 分享 收藏
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