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Science (New York, N.Y.)|October 19, 2019
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genesPingHsun Hsieh, Mitchell R Vollger, Vy Dang, et al.Biorxiv : the Preprint Server for Biology|April 27, 2026
Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequencesChristina Zakarian, Joshua D Smith, Chee Hong Wong, et al.Nature Ecology & Evolution|June 6, 2017
The evolution and population diversity of human-specific segmental duplicationsMegan Y Dennis, Lana Harshman, Bradley J Nelson, et al.American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.Biorxiv : the Preprint Server for Biology|July 9, 2025
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Philip C Dishuck, et al.Nature|April 3, 2024
The variation and evolution of complete human centromeresGlennis A Logsdon, Allison N Rozanski, Fedor Ryabov, et al.Biorxiv : the Preprint Server for Biology|April 17, 2026
A segmental duplication-mediated deletion leads to neocentromere formation in orangutansLuciana De Gennaro, DongAhn Yoo, Letizia Pistacchia, et al.Nature Communications|April 18, 2026
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Nidhi Koundinya, et al.Molecular Autism|May 24, 2024
Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptomsEric Courchesne, Vani Taluja, Sanaz Nazari, et al.American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, et al.Pageof 10