Disorders of Sex Development: Genetics, diagnosis, Informing Clinical Care

Project: Research

Status	Finished
Effective start/end date	1/01/15 → 31/12/19

National Health and Medical Research Council (NHMRC) (Australia): A$1,601,285.00

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model
Bakhshalizadeh, S., Bird, A. D., Sreenivasan, R., Bell, K. M., Robevska, G., van den Bergen, J., Asghari-Jafarabadi, M., Kueh, A. J., Touraine, P., Lokchine, A., Jaillard, S., Ayers, K. L., Wilhelm, D., Sinclair, A. H. & Tucker, E. J., Mar 2024, In: Genes. 15, 3, 17 p., 333.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
Y chromosome damage underlies testicular abnormalities in ATR-X syndrome
León, N. Y., Le, T. N. U., Garvie, A., Wong, L. H., Bagheri-Fam, S. & Harley, V. R., 17 May 2024, In: iScience. 27, 5, 16 p., 109629.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination
Croft, B., Bird, A. D., Ono, M., Eggers, S., Bagheri-Fam, S., Ryan, J. M., Reyes, A. P., van den Bergen, J., Baxendale, A., Thompson, E. M., Kueh, A. J., Stanton, P., Thomas, T., Sinclair, A. H. & Harley, V. R., Mar 2023, In: Clinical Genetics. 103, 3, p. 277-287 11 p.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

4 Citations (Scopus)

Project Details