Showing results (161-170 of 218) with videos related to
Sort By:
Pageof 22
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.Nature Communications|March 21, 2026
Multi-omic identification of key transcriptional regulatory programs during endurance exercise training in ratsGregory R Smith, Bingqing Zhao, Malene E Lindholm, et al.Nature Genetics|March 5, 2021
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomicsMarc Jan Bonder, Craig Smail, Michael J Gloudemans, et al.Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.Journal of Neurogenetics|May 10, 2021
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.Nucleic Acids Research|November 17, 2007
ORegAnno: an open-access community-driven resource for regulatory annotationObi L Griffith, Stephen B Montgomery, Bridget Bernier, et al.Cell|April 17, 2021
Population-scale tissue transcriptomics maps long non-coding RNAs to complex diseaseOlivia M de Goede, Daniel C Nachun, Nicole M Ferraro, et al.Pageof 22