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Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.Nature|August 23, 2023
Assembly of 43 human Y chromosomes reveals extensive complexity and variationPille Hallast, Peter Ebert, Mark Loftus, et al.The Journal of Clinical Investigation|August 2, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signalingGuodong Chen, Bin Yu, Senwei Tan, et al.Nature|April 8, 2021
The structure, function and evolution of a complete human chromosome 8Glennis A Logsdon, Mitchell R Vollger, PingHsun Hsieh, et al.Biorxiv : the Preprint Server for Biology|December 9, 2024
An updated reference genome sequence and annotation reveals gene losses and gains underlying naked mole-rat biologyDustin J Sokolowski, Mihai Miclăuş, Alexander Nater, et al.Cell|March 1, 2024
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.Molecular Psychiatry|June 15, 2026
Evidence supporting the role of GIGYF2 in synapse development and autismBin Yu, Shimeng Zhu, Linhu Xiao, et al.Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.Nature|May 6, 2021
A high-quality bonobo genome refines the analysis of hominid evolutionYafei Mao, Claudia R Catacchio, LaDeana W Hillier, et al.Pageof 10