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Annals of Human Genetics|November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long readsMitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 28, 2019
Analysis of Released Circulating Tumor Cells During Surgery for Non-Small Cell Lung CancerMenno Tamminga, Sanne de Wit, Caroline van de Wauwer, 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 Biotechnology|December 8, 2020
Fully phased human genome assembly without parental data using single-cell strand sequencing and long readsDavid Porubsky, Peter Ebert, Peter A Audano, 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.Nature Communications|November 7, 2022
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51Anne Margriet Heijink, Colin Stok, David Porubsky, et al.Cell Stem Cell|September 6, 2014
The developmental potential of iPSCs is greatly influenced by reprogramming factor selectionYosef Buganim, Styliani Markoulaki, Niek van Wietmarschen, et al.Nature Genetics|May 1, 2019
Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoidsAna C F Bolhaqueiro, Bas Ponsioen, Bjorn Bakker, 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.Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.Pageof 16