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American Journal of Human Genetics|January 11, 2016
An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between VariantsJoe R Davis, Laure Fresard, David A Knowles, et al.The Journal of Molecular Diagnostics : JMD|December 23, 2022
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer SyndromesNick Kamps-Hughes, Victoria E H Carlton, Laure Fresard, et al.Human Genetics|July 31, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationSamskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
Long-read genome sequencing identifies causal structural variation in a Mendelian diseaseJason D Merker, Aaron M Wenger, Tam Sneddon, et al.Blood Advances|September 10, 2021
Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistanceJustin Anthony Chen, Yanli Hou, Krishna M Roskin, et al.Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.The Journal of Allergy and Clinical Immunology|March 27, 2021
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeYin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorderJennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.Pageof 1