-
Ayers, KL, Eggers, S, Rollo, BN, Smith, KR, Davidson, NM, Siddall, NA, Zhao, L, Bowles, J, Weiss, K, Zanni, G, et al.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects..
Nat Commun
14(1)
:
3403
2023
view publication
-
Knarston, IM, Pachernegg, S, Robevska, G, Ghobrial, I, Er, PX, Georges, E, Takasato, M, Combes, AN, Jørgensen, A, Little, MH, et al.
An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development..
Stem Cell Reports
15(6)
:
1377 -1391
2020
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.
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9..
Nat Commun
9(1)
:
5319
2018
view publication
-
Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, et al.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort..
Genome Biol
17(1)
:
243
2016
view publication
-
Eggers, S, Smith, KR, Bahlo, M, Looijenga, LHJ, Drop, SLS, Juniarto, ZA, Harley, VR, Koopman, P, Faradz, SMH, Sinclair, AH.
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1..
Eur J Hum Genet
23(4)
:
486 -493
2015
view publication