-
Jaillard, S, Sreenivasan, R, Beaumont, M, Robevska, G, Dubourg, C, Knarston, IM, Akloul, L, van den Bergen, J, Odent, S, Croft, B, et al.
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility..
Maturitas
131:
78 -86
2020
view publication
-
Bagheri-Fam, S, Chen, H, Wilson, S, Ayers, K, Hughes, J, Sloan-Bena, F, Calvel, P, Robevska, G, Puisac, B, Kusz-Zamelczyk, K, et al.
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice..
PLoS One
15(1)
:
e0227411
2020
view publication
-
Ayers, K, Kumar, R, Robevska, G, Bruell, S, Bell, K, Malik, MA, Bathgate, RA, Sinclair, A.
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2..
J Med Genet
56(11)
:
727 -733
2019
view publication
-
Croft, B, Ohnesorg, T, Hewitt, J, Bowles, J, Quinn, A, Tan, J, Corbin, V, Pelosi, E, van den Bergen, J, Sreenivasan, R, et al.
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9..
Nat Commun
10(1)
:
3351
2019
view publication
-
Tucker, EJ, Jaillard, S, Grover, SR, van den Bergen, J, Robevska, G, Bell, KM, Sadedin, S, Hanna, C, Dulon, J, Touraine, P, et al.
TP63-truncating variants cause isolated premature ovarian insufficiency..
Hum Mutat
40(7)
:
886 -892
2019
view publication