Dr Haloom Rafehi
Honorary (Fellow)
Department of Medical Biology (WEHI)
51 Scholarly works
0 Projects
HIGHLIGHTS
2025
Journal article
Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts
DOI: 10.1038/s41531-025-01188-52025
Journal article
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
DOI: 10.1007/s12311-025-01867-22025
Journal article
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
DOI: 10.1101/gr.279634.1242024
Journal article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
DOI: 10.1186/s13023-024-03297-52024
Journal article
Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson’s disease
DOI: 10.1038/s41531-024-00831-x2024
Journal article
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
DOI: 10.1002/acn3.520412020
Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
DOI: 10.1038/s41431-020-0606-z
RECENT SCHOLARLY WORKS
2023
Journal article
Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data
DOI: 10.1002/mds.296362023
Journal article
Characterization of K562 cells: uncovering novel chromosomes, assessing transferrin receptor expression, and probing pharmacological therapies
DOI: 10.1007/s00018-023-04905-62023
Journal article
Erratum: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (The American Journal of Human Genetics (2023) 110(1) (105–119), (S0002929722005067), (10.1016/j.ajhg.2022.11.015))
DOI: 10.1016/j.ajhg.2023.05.0052023
Journal article
Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes
DOI: 10.1172/JCI160959