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Biorxiv : the Preprint Server for Biology|April 1, 2025
Genetic diversity and regulatory features of human-specific NOTCH2NL duplicationsTaylor D Real, Prajna Hebbar, DongAhn Yoo, et al.American Journal of Human Genetics|January 11, 2016
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNATychele N Turner, Fereydoun Hormozdiari, Michael H Duyzend, et al.Science (New York, N.Y.)|October 17, 2024
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variationFeyza Yilmaz, Charikleia Karageorgiou, Kwondo Kim, et al.Systematic Biology|June 7, 2021
Accelerated Diversification Explains the Exceptional Species Richness of Tropical Characoid FishesBruno F Melo, Brian L Sidlauskas, Thomas J Near, et al.Cell Genomics|March 31, 2026
Genetic diversity and regulatory features of human-specific NOTCH2NL duplicationsTaylor D Real, Prajna Hebbar, DongAhn Yoo, et al.Nature Communications|November 9, 2016
De novo genic mutations among a Chinese autism spectrum disorder cohortTianyun Wang, Hui Guo, Bo Xiong, et al.Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Pangenome discovery of missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, et al.Biorxiv : the Preprint Server for Biology|March 22, 2023
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.Nature Communications|January 23, 2026
Using the linear references from the pangenome to discover missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, et al.American Journal of Human Genetics|June 17, 2026
Complete chromosome 21 centromere sequencing of families with Down syndromeF Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro, et al.Pageof 10