Haloom Rafehi
75 Commercial Road
Melbourne, VIC 3004, Australia
Melbourne, VIC 3004, Australia
Last Updated: 09/26/2026
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Found 42 publications
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 19, 2026
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
Journal: Cerebellum (London, England)
Published: June 01, 2025
Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease.
Journal: NPJ Parkinson's disease
Published: July 01, 2024
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Journal: Genome research
Published: June 11, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Journal: Annals of clinical and translational neurology
Published: February 02, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Journal: Orphanet journal of rare diseases
Published: August 09, 2023
Characterization of K562 cells: uncovering novel chromosomes, assessing transferrin receptor expression, and probing pharmacological therapies.
Journal: Cellular and molecular life sciences : CMLS
Published: July 09, 2023
Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
Journal: Emerging topics in life sciences
Published: June 20, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Journal: American journal of human genetics
Published: June 02, 2023
Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 20, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Journal: American journal of human genetics
Published: October 12, 2022
Last Updated: 09/26/2026