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Bioinformatics (Oxford, England)|July 27, 2022
ColocQuiaL: a QTL-GWAS colocalization pipelineBrian Y Chen, William P Bone, Kim Lorenz, et al.
BMC Medical Genomics|August 29, 2016
Explorations to improve the completeness of exome sequencingChen Du, Barbara N Pusey, Christopher J Adams, et al.
Alzheimer'S Research & Therapy|February 5, 2021
Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traitsWilliam P Bone, Katherine M Siewert, Anupama Jha, et al.
Journal of Medical Genetics|December 16, 2015
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationMariska Davids, Megan S Kane, Miao He, et al.
Nature Genetics|May 29, 2024
High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR-Cas9 editingNathan H Lazar, Safiye Celik, Lu Chen, et al.
Journal of Thrombosis and Haemostasis : JTH|March 14, 2022
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associationsGerard Temprano-Sagrera, Colleen M Sitlani, William P Bone, et al.
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Circulation. Genomic and Precision Medicine|May 11, 2023
Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid LevelsKaterina A B Gawronski, William P Bone, YoSon Park, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 30, 2019
Natural human genetic variation determines basal and inducible expression of <i>PM20D1</i>, an obesity-associated geneKiara K Benson, Wenxiang Hu, Angela H Weller, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
MED23-associated intellectual disability in a non-consanguineous familyAditi Trehan, Jacqueline M Brady, Valerie Maduro, et al.
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