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Nature|October 1, 2020
Repeat expansions confer WRN dependence in microsatellite-unstable cancersNiek van Wietmarschen, Sriram Sridharan, William J Nathan, et al.American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.Annals of Neurology|January 3, 2021
The Effect of SMN Gene Dosage on ALS Risk and Disease SeverityMatthieu Moisse, Ramona A J Zwamborn, Joke van Vugt, et al.Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.Biorxiv : the Preprint Server for Biology|August 16, 2024
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Nature|April 24, 2025
Human de novo mutation rates from a four-generation pedigree referenceDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSAndré B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.Genome Research|September 10, 2017
Detection of long repeat expansions from PCR-free whole-genome sequence dataEgor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, et al.Pageof 7