Publications by authors named "Egor Dolzhenko"

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Novel Repeat Motif Patterns in Peruvian Families Modify Disease Onset.
Kamilla Sedov, Carla Manrique-Enciso, Madison James Yang, Ismael Araujo-Aliaga, Egor Dolzhenko

Neurol Genet· December 2025

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The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.
Joke J F A van Vugt, Ramona A J Zwamborn, Egor Dolzhenko, Michael A Eberle, Ben Weisburd

Brain Commun· December 2025

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A tandem repeat atlas for the genome of inbred mouse strains: A genetic variation resource.
Wenlong Ren, Weida Liu, Zhuoqing Fang, Egor Dolzhenko, Ben Weisburd

iScience· November 2025

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Defining a tandem repeat catalog and variation clusters for genome-wide analyses.
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, Matt C Danzi, Isaac R L Xu

bioRxiv· October 2025

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The Platinum Pedigree: a long-read benchmark for genetic variants.
Zev Kronenberg, Cillian Nolan, David Porubsky, Tom Mokveld, William J Rowell, Egor Dolzhenko

Nat Methods· August 2025

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Human de novo mutation rates from a four-generation pedigree reference.
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Egor Dolzhenko

Nature· July 2025

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A Murine Database of Structural Variants Enables the Genetic Architecture of a Spontaneous Murine Lymphoma to be Characterized.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T Saunders, Zhuanfen Cheng

bioRxiv· May 2025

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A Tandem Repeat Atlas for the Genome of Inbred Mouse Strains: A Genetic Variation Resource.
Wenlong Ren, Weida Liu, Zhuoqing Fang, Egor Dolzhenko, Ben Weisburd

bioRxiv· May 2025

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Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Carolin Anna Maria Koriath, Fernando Guntoro, Penelope Norsworthy, Egor Dolzhenko, Michael Eberle

J Neurol Neurosurg Psychiatry· April 2025

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Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.
Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, Matthew Welland, Eleanor Spenceley, Egor Dolzhenko

bioRxiv· April 2025

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Analysis and benchmarking of small and large genomic variants across tandem repeats.
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K McKenzie, Nathan D Olson

Nat Biotechnol· March 2025

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M Devaney, Jessica Noya

Nat Commun· March 2025

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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K Avvaru

Genome Med· March 2025

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HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Wolfram Höps, Marjan M Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Egor Dolzhenko

Am J Hum Genet· February 2025

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Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.
Matt C Danzi, Isaac R L Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin

bioRxiv· January 2025

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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Bharati Jadhav, Paras Garg, Joke J F A van Vugt, Kristina Ibanez, Delia Gagliardi, Egor Dolzhenko

Nat Genet· November 2024

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Characterization and visualization of tandem repeats at genome scale.
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld

Nat Biotechnol· October 2024

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A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree.
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Egor Dolzhenko

bioRxiv· August 2024

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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A Eberle, Jan M Friedman

Nat Rev Genet· July 2024

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran

Nat Genet· July 2024

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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Egor Dolzhenko

NPJ Parkinsons Dis· July 2024

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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Grace E VanNoy, Edibe Nehir Kurtas

medRxiv· May 2024

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
Sarah Fazal, Matt C Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Egor Dolzhenko

Genome Biol· January 2024

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Benchmarking of small and large variants across tandem repeats.
Adam English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean Mckenzie, Nathan D Olson

bioRxiv· November 2023

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A deep population reference panel of tandem repeat variation.
Helyaneh Ziaei Jam, Yang Li, Ross DeVito, Nima Mousavi, Nichole Ma, Egor Dolzhenko

Nat Commun· October 2023

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