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Research

Publications: DR Kristina Ibanez Garikano

Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J et al. ( 2025 ) . Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy . Brain Communications vol. 7 , ( 6 )
Clarkson C, Chen Z, Rocca C, Jadhav B, Ibañez K, Ryten M, Sharp AJ, Houlden H et al. ( 2024 ) . A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank . Movement Disorders vol. 40 , ( 3 ) 561 - 566 .
Barraza‐García J, Rivera‐Pedroza CI, Hisado‐Oliva A, Belinchón‐Martínez A, Sentchordi‐Montané L, Duncan EL, Clark GR, del Pozo A et al. ( 2017 ) . Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia . Clinical Genetics vol. 92 , ( 1 ) 91 - 98 .
Ibáñez K, Boullosa C, Tabarés-Seisdedos R, Baudot A ( 2014 ) . Molecular Evidence for the Inverse Comorbidity between Central Nervous System Disorders and Cancers Detected by Transcriptomic Meta-analyses . PLOS Genetics vol. 10 , ( 2 )
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A et al. . Increased frequency of repeat expansion mutations across different populations .