Martin B. Delatycki
Muscular Dystrophy Association(US)Royal Children's Hospital(AU)Deakin University(AU)University of Melbourne(AU)The University of Melbourne(AU)Parks Victoria(AU)Victorian Clinical Genetics Services(AU)Murdoch Children's Research Institute(AU)Murdoch Children's Research Institute(AU)Monash University(AU)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Parkinson's Disease Mechanisms and Treatments, Prenatal Screening and Diagnostics, Cystic Fibrosis Research Advances
Most-Cited Works
- → Iron-Overload–Related Disease inHFEHereditary Hemochromatosis(2008)718 cited
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy(2007)447 cited
- → Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS(2019)282 cited
- → Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)(2020)277 cited
- → Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology(2014)270 cited