selected publications

Selected Publications

View the list of selected publications here.

1. Immp2l enhances the structure and function of mitochondrial Gpd2 dehydrogenase (2024). Clarke RA*, Govindaraju H, Beretta M, Olzomer E, Lawther A, Walker AK, Fang Z, Eapen V, Cohen-Hyams T, Killingsworth M, Bridge WJ, Turner N, Siddiqui KS*. Int J Mol Sci. 2024 Jan 12;25(2):990.

2. Antioxidant behavioural phenotype in the Immp2l gene knockout mouse (2023). Lawther AJ, Zieba J, Fang Z, Furlong TM, Conn I, Govindaraju H, Choong LL, Turner N, Siddiqui KS, Bridge W, Merlin S, Cohen-Hyams T, Killingsworth M, Eapen V, Clarke RA* and Walker AK*. Genes 2023 August 28;14(9):1717. *Senior Authors.

3. Immp2l knockdown in male mice increases stimulus-driven instrumental behaviour but does not alter goal-directed learning or neuron density in cortico-striatal circuits in a model of Tourette syndrome and autism spectrum disorder (2023). Leung BK, Merlin S, Walker AK, Lawther AJ, Paxinos G, Eapen V, Clarke R, Balleine BW, Furlong TM. Behavioural Brain Research 452 (2023) 114610.

4. First behavioural assessment of a novel Immp2l knockdown mouse model with relevance for Gilles de la Tourette syndrome and autism spectrum disorder(2019). Kreilaus F, Chesworth R, Eapen V, Clarke R, Karl T (2019). Brain Research 2019. Nov 18; 374.

5. Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function (2021). Clarke RA, Furlong T, Eapen V (2021). Frontiers in Psychiatry 2021 March 10;11.

6. Transcriptional Interference Regulates the Evolutionary Development of Speech (2022). Mortlock DP, Fang ZM, Chandler KJ, Hou Y, Bickford LR, de Bock CE, Eapen V, Clarke RA. Genes 2022 July 4; 13(7) 1195.

7. Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism (2012). Clarke RA, Lee S, Eapen V. Translational Psychiatry Sept, e158; doi:10.1038/tp.2012.75. * Seminal paper in the field describing the first integrated pathogenetic model for Tourette syndrome.

8. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer (2002).Scott SP, Bendix R, Chen P, Clarke R, Dork T, Lavin MF (2002). PNAS, 99(2): 925-30. *The first study to demonstrate ATM dominant negative interference effects.

9. Pre-treatment with anastrozole may be the optimal treatment sequence with radiotherapy for breast cancer (2008). Graham P and Clarke RA.  Asia-Pacific Journal of Clinical Oncology 2008. 4 (1), 27-33. *A significant molecular contribution for clinical planning of radiotherapy for breast cancer.

10. Radioresistant malignant myoepithelioma of the breast with high level of ATM (2009).  Fang ZM, Tse RV, Marjoniemi VM, Koslov S, Lavin MF, Chen H, Kearsley JH, Graham PH and Clarke RA. Journal of Medical Imaging and Radiation Oncology 2009, Apr; 53(2):234-9.

11. Differential expression of PCA3 and BMCC1 in prostate cancer (2009). Lavin MF, Clarke R, Gardiner RA. Prostate 2009, Dec 1, 69(16): 1713-1724. 

12. BMCC1 is an AP-2 associated endosomal protein in prostate cancer cells (2013). Harris JL, Richards RS, Chow C, Lee CS, Kim M, Buck M, Teng L, Clarke R, Gardiner R, Lavin MF. PLOS ONE 2013, September | Volume 8 | Issue 9 | e73880.

13. Smg1 haploinsufficiency predisposes to tumour formation and inflammation (2012). Roberts TL, Ho U, Luff J, Lee CS, Apte SH, MacDonald K, Raggat LJ, Pettit AR, Morrow CA, Waters MJ, Chen P, Woods RG, Thomas GP, St. Pierre L, Farah CS, Clarke RA, Brown J, and Lavin MF. Proc Natl Acad Sci USA 2013, Jan 22;110(4):E285-94.

14. Low levels of ATM in breast cancer patients with clinical radiosensitivity (2010). Fang ZM, Kozlov S†, Birrell G, Chen P, Song E, Graham PH, Murrell D, Lavin M, Woods R, John H. Kearsley and Clarke RA. Genome Integrity 2010, 1(9): 1-12. * A classic study that provides the basis for the variable presentation of breast cancer in AT carriers.

15. siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference (2021). Fang ZM, Eapen V and Clarke RA. Genes 2021. Aug 23; 12(8) 1290.

16. GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment (2021). Clarke RA, Fang ZM, Murrell, Sheriff T, Eapen V. Genes 2021 August 29; 12(9).

17. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome (2008). Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Human Mutation 2008, 29(8), 1017-1027. *This represents the seminal paper in the field describing the first gene causing spinal birth defects in familial Klippel-Feil syndrome.