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Movement Disorders : Official Journal of the Movement Disorder Society|December 9, 2024
A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK BiobankChris Clarkson, Zhongbo Chen, Clarissa Rocca, et al.
Brain : a Journal of Neurology|January 9, 2023
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxiaZhongbo Chen, Arianna Tucci, Valentina Cipriani, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
The Journal of Experimental Medicine|December 29, 2018
Somatic activating mutations in PIK3CA cause generalized lymphatic anomalyLara Rodriguez-Laguna, Noelia Agra, Kristina Ibañez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2018
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotypeLara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, et al.
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Nature Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
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