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American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.Science (New York, N.Y.)|May 29, 2025
Predicting expression-altering promoter mutations with deep learningKishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, et al.Nature Genetics|December 3, 2024
Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseasesChi Tian, Yuntian Zhang, Yihan Tong, et al.Cell Genomics|July 31, 2024
Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissuesYoshihiko Tomofuji, Ryuya Edahiro, Kyuto Sonehara, et al.Nature Communications|June 26, 2019
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failurePablo Cordero, Victoria N Parikh, Elizabeth T Chin, 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.Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.Plos Genetics|February 10, 2011
The architecture of gene regulatory variation across multiple human tissues: the MuTHER studyAlexandra C Nica, Leopold Parts, Daniel Glass, et al.Cell|October 1, 2024
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disordersBo Zhou, Joseph G Arthur, Hanmin Guo, et al.Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.Pageof 22