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Biorxiv : the Preprint Server for Biology|February 7, 2023
Structural variation across 138,134 samples in the TOPMed consortiumGoo Jun, Adam C English, Ginger A Metcalf, et al.Research Square|February 13, 2023
Structural variation across 138,134 samples in the TOPMed consortiumGoo Jun, Adam C English, Ginger A Metcalf, et al.Nature Communications|May 24, 2024
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genesRebecca Keener, Surya B Chhetri, Carla J Connelly, et al.American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.Cell Genomics|May 9, 2022
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMedMargaret A Taub, Matthew P Conomos, Rebecca Keener, et al.Pageof 39