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Projects

Research Output

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

van den Bergen, J. A., Robevska, G., Eggers, S., Riedl, S., Grover, S. R., Bergman, P. B., Kimber, C., Jiwane, A., Khan, S., Krausz, C., Raza, J., Atta, I., Davis, S. R., Ono, M., Harley, V., Faradz, S. M. H., Sinclair, A. H. & Ayers, K. L., 22 Nov 2020, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. 14 p., e1095.

Research output: Contribution to journalArticleResearchpeer-review

Open Access

A clinical algorithm to diagnose differences of sex development

León, N. Y., Reyes, A. P. & Harley, V. R., 1 Jul 2019, In : The Lancet Diabetes and Endocrinology. 7, 7, p. 560-574 15 p.

Research output: Contribution to journalReview ArticleResearchpeer-review

1 Citation (Scopus)

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 (Nature Communications, (2018), 9, 1, (5319), 10.1038/s41467-018-07784-9)

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., 1 Dec 2019, In : Nature Communications. 10, 1, 3351.

Research output: Contribution to journalComment / DebateOtherpeer-review

Open Access

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

4 Citations (Scopus)

Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signaling"

Foreman, M., Vilain, E. & Harley, V., 1 Oct 2019, In : The Journal of clinical endocrinology and metabolism. 104, 10, p. 4420-4420 1 p.

Research output: Contribution to journalArticleOtherpeer-review

Open Access