Kristina Ibanez

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Journal: Brain communications

Published: January 19, 2025

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 13, 2024

Increased frequency of repeat expansion mutations across different populations.

Increased frequency of repeat expansion mutations across different populations.

Journal: medRxiv : the preprint server for health sciences

Published: July 18, 2023

Increased frequency of repeat expansion mutations across different populations.

Increased frequency of repeat expansion mutations across different populations.

Journal: Nature medicine

Published: June 22, 2023

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2023

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Journal: Nature genetics

Published: April 12, 2023

Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.

Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.

Journal: Brain communications

Published: January 16, 2023

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Journal: Brain : a journal of neurology

Published: July 28, 2022

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Journal: Brain : a journal of neurology

Published: June 27, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Journal: BMJ (Clinical research ed.)

Published: November 04, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026