Search Results - David N. Cooper
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Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization by Siying Lin, Haoyang Zhang, Mengling Qi, David N. Cooper, Yuedong Yang, Yuanhao Yang, Huiying Zhao
Published in NeuroImage (2023-10-01)Get full text
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Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions by Stavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, David N. Cooper, Christina Mitropoulou, George P. Patrinos, George P. Patrinos, George P. Patrinos
Published in Frontiers in Pharmacology (2019-08-01)Get full text
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Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set by David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan
Published in Genome Medicine (2023-11-01)Get full text
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The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function by Yuepeng Hu, Guofu Zhang, Qi Yang, Na Pu, Kaiwei Li, Baiqiang Li, David N. Cooper, Zhihui Tong, Weiqin Li, Jian-Min Chen
Published in Lipids in Health and Disease (2023-08-01)Get full text
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Repurposing the memory-promoting meclofenoxate hydrochloride as a treatment for Parkinson’s disease through integrative multi-omics analysis by Huasong Zhang, Cong Fan, Ling Li, Feiyi Liu, Shaoying Li, Linyun Ma, Yuanhao Yang, David N. Cooper, Yuedong Yang, Ronggui Hu, Huiying Zhao
Published in npj Parkinson's Disease (2025-06-01)Get full text
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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date by Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li
Published in Lipids in Health and Disease (2023-08-01)Get full text
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Expanding ACMG variant classification guidelines into a general framework by Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
Published in Human Genomics (2022-08-01)Get full text
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Development of a genetic priority score to predict drug side effects using human genetic evidence by Áine Duffy, Robert Chen, David Stein, Joshua K. Park, Matthew Mort, Marie Verbanck, Avner Schlessinger, Yuval Itan, David N. Cooper, Daniel M. Jordan, Ghislain Rocheleau, Ron Do
Published in Nature Communications (2025-09-01)Get full text
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Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Published in BMC Medical Genetics (2018-10-01)Get full text
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High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic Pancreatitis by Yuan-Chen Wang, Wen-Bin Zou, Da-Hai Tang, Lei Wang, Liang-Hao Hu, Yang-Yang Qian, David N. Cooper, Claude Férec, Zhao-Shen Li, Jian-Min Chen, Zhuan Liao
Published in Gastro Hep Advances (2023-01-01)Get full text
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Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkResearch in context by Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Xuehao Xiu, Cong Fan, Mengling Qi, Meng Meng, Junping Ye, Matthew Mort, Peter D. Stenson, David N. Cooper, Huiying Zhao
Published in EBioMedicine (2024-09-01)Get full text
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Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in preg... by Xiao‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li
Published in Molecular Genetics & Genomic Medicine (2020-03-01)Get full text
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Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score by Robert Chen, Áine Duffy, Ben O. Petrazzini, Ha My Vy, David Stein, Matthew Mort, Joshua K. Park, Avner Schlessinger, Yuval Itan, David N. Cooper, Daniel M. Jordan, Ghislain Rocheleau, Ron Do
Published in Nature Communications (2024-10-01)Get full text
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A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. by Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Steven M Lipkin, Marcus B Smolka, Haiyuan Yu
Published in PLoS Genetics (2014-12-01)Get full text
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NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads by Jiang Hu, Zhuo Wang, Zongyi Sun, Benxia Hu, Adeola Oluwakemi Ayoola, Fan Liang, Jingjing Li, José R. Sandoval, David N. Cooper, Kai Ye, Jue Ruan, Chuan-Le Xiao, Depeng Wang, Dong-Dong Wu, Sheng Wang
Published in Genome Biology (2024-04-01)Get full text
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