Mark F. Bennett
The University of Melbourne(AU)Walter and Eliza Hall Institute of Medical Research(AU)Austin Health(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genetic Neurodegenerative Diseases, RNA modifications and cancer, Genomics and Phylogenetic Studies, Genomics and Rare Diseases
Most-Cited Works
- → Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS(2019)282 cited
- → ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data(2020)219 cited
- → SYNGAP1 encephalopathy(2018)209 cited
- → Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3(2019)169 cited
- → Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2(2019)164 cited
- → An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14(2022)159 cited