2016 PhD, Queensland University of Technology Thesis Title: Development of High Through-Put Neurogenetics Diagnostics Supervisors: Professor Lyn Griffiths (Principal), Dr Robert A Smith (Associate)
2016 PhD, Queensland University of Technology
Thesis Title: Development of High Through-Put Neurogenetics Diagnostics
Supervisors: Professor Lyn Griffiths (Principal), Dr Robert A Smith (Associate)
Neven is a molecular geneticist working at QUT in a Post Doc Research Fellow position. Neven completed her PhD in 2016, developing a targeted Next Generation Sequencing method for 5 neurological genes (NGS-Panel) which has been accredited by NATA and became an available test for hospitals, neurologists and pathology labs around Australia, NZ and parts of Asia. The aim of this project was to reduce the cost and facilitate the molecular genetic testing for different neurological conditions such as familial Hemiplegic Migraine, Episodic Ataxia, Spinocerebellar Ataxia, CADASIL and related conditions. Neven is interested in the direct application of genetic testing for diagnosis of patient samples using different molecular genetic techniques (Sanger sequencing, targeted gene sequencing (NGS-Panel) and whole exome sequencing).
Neven’s current project is focusing on “Improving the efficiency and efficacy of the molecular genetics diagnostics for the hereditary Ataxia and Stroke disorders using whole exome sequencing technology.” The project is supported by the School of biomedical Sciences, QUT and ThermoFisher as an industry partner (2018). She is also involved in “Identifying novel gene mutations for molecular diagnosis of Familial Hemiplegic Migraine” grant which is supported by National Health and Medical Research Council-NHMRC (2016-2019).
- Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Sampaio, Hugo, Griffiths, Lyn (2018) Whole-exome sequencing implicates SCN2A in episodic ataxia, but multiple ion channel variants may contribute to phenotypic complexity International Journal of Molecular Sciences, 19 (10), pp.Article number: 3113 1-9.
- Bradshaw, Gabrielle, Lualhati, Robbie, Albury, Cassie, Maksemous, Neven, Roos-Araujo, Deidre, Smith, Robert, Benton, Miles, Eccles, David, Lea, Rodney, Sutherland, Heidi, et al. (2018) Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case Frontiers in Immunology, 9, pp.Article number: 420 1-9.
- Dunn, Paul, Albury, Cassie, Maksemous, Neven, Benton, Miles, Sutherland, Heidi, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2018) Next generation sequencing methods for diagnosis of epilepsy syndromes Frontiers in Genetics, 9, pp.Article number: 20 1-11.
- Maksemous, Neven, Smith, Robert, Haupt, Larisa, Griffiths, Lyn (2016) Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients Human Genomics, 10, pp.Article number: 38 1-12.
- Maksemous, Neven, Roy, Bishakha, Smith, Robert, Griffiths, Lyn (2016) Next generation sequencing identifies novel CACNA1A gene mutations in Episodic Ataxia type 2 Molecular Genetics and Genomic Medicine, 4 (2), pp.211-222.
- Tantsis, Esther, Gill, Deepak, Griffiths, Lyn, Gupta, Sachin, Lawson, John, Maksemous, Neven, Ouvrier, Robert, Riant, Florence, Smith, Robert, Troedson, Christopher, et al. (2016) Eye movement disorders are an early manifestation of CACNA1A mutations in children Developmental Medicine and Child Neurology, 58 (6), pp.639-644.