未登录Identification of effect modifiers using a stratified Mendelian randomization algorithmic framework使用分层孟德尔随机化算法框架识别效应修饰因子
Man, Alice; Knusel, Leona; Graf, Josef; Lali, Ricky; Le, Ann; Di Scipio, Matteo; Mohammadi-Shemirani, Pedrum; Chong, Michael; Pigeyre, Marie; Kutalik, Zoltan; Pare, Guillaume .png)
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收藏Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplicationAdele, 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 分享 收藏 分享 收藏 分享 收藏 A method to estimate the contribution of rare coding variants to complex trait heritabilityPathan, Nazia; Deng, Wei Q.; Di Scipio, Matteo; Khan, Mohammad; Mao, Shihong; Morton, Robert W.; Lali, Ricky; Pigeyre, Marie; Chong, Michael R.; Pare, Guillaume 分享 收藏 A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasetsDi Scipio, Matteo; Khan, Mohammad; Mao, Shihong; Chong, Michael; Judge, Conor; Pathan, Nazia; Perrot, Nicolas; Nelson, Walter; Lali, Ricky; Di, Shuang; Morton, Robert; Petch, Jeremy; Pare, Guillaume 分享 收藏 Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Pechhacker, Monika K. Grudzinska; Jacobson, Samuel G.; Drack, Arlene, V; Di Scipio, Matteo; Strubbe, Ine; Pfeifer, Wanda; Duncan, Jacque L.; Dollfus, Helene; Goetz, Nathalie; Muller, Jean; Vincent, Andrea L.; Aleman, Tomas S.; Tumber, Anupreet; Van Cauwenbergh, Caroline; De Baere, Elfride; Bedoukian, Emma; Leroy, Bart P.; Maynes, Jason T.; Munier, Francis L.; Tavares, Erika; Saleh, Eman; Vincent, Ajoy; Heon, Elise 分享 收藏 COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageTabbarah, Sami; Tavares, Erika; Charish, Jason; Vincent, Ajoy; Paterson, Andrew; Di Scipio, Matteo; Yin, Yue; Mendoza-Londono, Roberto; Maynes, Jason; Heon, Elise; Monnier, Philippe P. 分享 收藏 DYNC2H1hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationVig, Anjali; Poulter, James A.; Ottaviani, Daniele; Tavares, Erika; Toropova, Katerina; Tracewska, Anna Maria; Mollica, Antonio; Kang, Jasmine; Kehelwathugoda, Oshini; Paton, Tara; Maynes, Jason T.; Wheway, Gabrielle; Arno, Gavin; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Di Scipio, Matteo; Li, Shuning; Ellingford, Jamie; Black, Graeme; Webster, Andrew; Rydzanicz, Malgorzata; Stawinski, Piotr; Ploski, Rafal; Vincent, Ajoy; Cheetham, Michael E.; Inglehearn, Chris F.; Roberts, Anthony; Heon, Elise 分享 收藏 Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationDi Scipio, Matteo; Tavares, Erika; Deshmukh, Shriya; Audo, Isabelle; Green-Sanderson, Kit; Zubak, Yuliya; Zine-Eddine, Faycal; Pearson, Alexander; Vig, Anjali; Tang, Chen Yu; Mollica, Antonio; Karas, Jonathan; Tumber, Anupreet; Yu, Caberry W.; Billingsley, Gail; Wilson, Michael D.; Zeitz, Christina; Heon, Elise; Vincent, Ajoy 分享 收藏 分享 收藏 
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