HR
Haloom Rafehi
Walter and Eliza Hall Institute of Medical Research, Monash University Central Clinical School, The University of Melbourne, Baker Heart and Diabetes Institute
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Genomics and Rare Diseases · Epigenetics and DNA Methylation · Genetic Neurodegenerative Diseases
0000-0002-8954-4930
Employment
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Walter and Eliza Hall Institute of Medical Research Senior Research Fellow2017 - Present
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Monash University Central Clinical School Research Fellow2017 - 2017
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Baker IDI Heart and Diabetes Institute Research Officer2015 - 2016
Education
- 2010 - 2015
Projects & Funding
Projects & funding information is unavailable.
Publications (42)
- Identification of expanded and interruptedATXN2repeat expansions in Parkinson’s disease cohorts Save
- Unveiling Peripheral Immune Dysfunction in Parkinson’s Disease through Analysis of Blood-based Mitochondrial DNA Copy Number Save
- Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future Save
- Exploring THAP11 Repeat Expansion beyond Chinese‐Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data Save
- Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes. Save
- An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Save
- Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study. Save
- Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. Save
- Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 Save
- A family study implicates GBE1 in the etiology of autism spectrum disorder. Save
- Infanticide vs. inherited cardiac arrhythmias. Save
- Sex-Specific Control of Human Heart Maturation by the Progesterone Receptor. Save
- The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. Save
- Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data. Save
- Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. Save
- Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data Save
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Save
- Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update Save
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Save
- Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling Save