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Projects 2012 2023

Research Output 1988 2019

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling

Foreman, M., Hare, L., York, K., Balakrishnan, K., Sánchez, F. J., Harte, F., Erasmus, J., Vilain, E. & Harley, V. R., 1 Feb 2019, In : The Journal of clinical endocrinology and metabolism. 104, 2, p. 390-396 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson’s disease

Lee, J., Pinares-Garcia, P., Loke, H., Ham, S., Vilain, E. & Harley, V., 2019, (Accepted/In press) In : Proceedings of the National Academy of Sciences. 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Croft, B., Ohnesorg, T., Hewitt, J., Bowles, J., Quinn, A., Tan, J., Corbin, V., Pelosi, E., van den Bergen, J., Sreenivasan, R., Knarston, I., Robevska, G., Vu, D. C., Hutson, J., Harley, V., Ayers, K., Koopman, P. & Sinclair, A., 14 Dec 2018, In : Nature Communications. 9, 1, 10 p., 5319.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

Barseghyan, H., Symon, A., Zadikyan, M., Almalvez, M., Segura, E. E., Eskin, A., Bramble, M. S., Arboleda, V. A., Baxter, R., Nelson, S. F., Délot, E. C., Harley, V. & Vilain, E., 30 Jan 2018, In : Biology of Sex Differences. 9, 1, 13 p., 8.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

Sreenivasan, R., Ludbrook, L. M., Fisher, B. D., Declosmenil, F., Knower, K. C., Croft, B. M., Bird, A. D., Ryan, J., Bashamboo, A., Sinclair, A., Koopman, P., McElreavey, K., Poulat, F. & Harley, V. R., 1 Dec 2018, In : Human Mutation. 39, 12, p. 1861-1874 14 p.

Research output: Contribution to journalArticleResearchpeer-review