Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 B Croft, T Ohnesorg, J Hewitt, J Bowles, A Quinn, J Tan, V Corbin, ... Nature communications 9 (1), 5319, 2018 | 158 | 2018 |
The role of copy number variants in disorders of sex development B Croft, T Ohnesorg, AH Sinclair Sexual Development 12 (1-3), 19-29, 2018 | 54 | 2018 |
NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients IM Knarston, G Robevska, JA van den Bergen, S Eggers, B Croft, J Yates, ... Human mutation 40 (2), 207-216, 2019 | 44 | 2019 |
Review disorders of sex development: the evolving role of genomics in diagnosis and gene discovery B Croft, K Ayers, A Sinclair, T Ohnesorg Birth Defects Research Part C: Embryo Today: Reviews 108 (4), 337-350, 2016 | 37 | 2016 |
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility S Jaillard, R Sreenivasan, M Beaumont, G Robevska, C Dubourg, ... Maturitas 131, 78-86, 2020 | 34 | 2020 |
Mutant NR5A1/SF‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer R Sreenivasan, L Ludbrook, B Fisher, F Declosmenil, KC Knower, B Croft, ... Human Mutation 39 (12), 1861-1874, 2018 | 17 | 2018 |
Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes AD Bird, BM Croft, M Harada, L Tang, L Zhao, Z Ming, S Bagheri-Fam, ... Human molecular genetics 29 (13), 2148-2161, 2020 | 12 | 2020 |
Using ROADMAP data to identify enhancers associated with disorders of sex development T Ohnesorg, B Croft, J Tan, AH Sinclair Sexual Development 10 (2), 59-65, 2016 | 11 | 2016 |
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 AC Thuresson, B Croft, YD Hailer, G Liminga, CG Arvidsson, VR Harley, ... Clinical genetics 99 (2), 325-329, 2021 | 6 | 2021 |
Generation and mutational analysis of a transgenic mouse model of human SRY E Thomson, L Zhao, YS Chen, E Longmuss, ET Ng, R Sreenivasan, ... Human Mutation 43 (3), 362-379, 2022 | 5 | 2022 |
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination B Croft, AD Bird, M Ono, S Eggers, S Bagheri‐Fam, JM Ryan, AP Reyes, ... Clinical genetics 103 (3), 277-287, 2023 | 4 | 2023 |
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 B Croft, T Ohnesorg, J Hewitt, J Bowles, A Quinn, J Tan, V Corbin, ... Nature Communications 10, 2019 | 4 | 2019 |
Somatic FGFR2 is required for germ cell maintenance in the mouse ovary AD Bird, ER Frost, S Bagheri-Fam, BM Croft, JM Ryan, L Zhao, ... Endocrinology 164 (5), bqad031, 2023 | 1 | 2023 |
Genetic Control of Fetal Sex Development R Sreenivasan, B Croft, A Sinclair Academic Press, 2019 | 1 | 2019 |
Corrigendum to: Disorders of Sex Development: The Evolving Role of Genomics in Diagnosis and Gene Discovery (108,(337-350), 10.1002/bdrc. 21148) B Croft, K Ayers, A Sinclair, T Ohnesorg Birth Defects Research 109 (11), 869-871, 2017 | 1 | 2017 |
Duplication and deletion of key SOX9 enhancers cause sex reversal in humans BM Croft, T Ohnesorg, AH Sinclair EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1090-1090, 2019 | | 2019 |
Cover Image, Volume 40, Issue 2 IM Knarston, G Robevska, JA van den Bergen, S Eggers, B Croft, J Yates, ... Human Mutation 40 (2), i-i, 2019 | | 2019 |
Author Index Vol. 12, No. 1-3, 2018 S Bertelloni, G Russo, GI Baroncelli, F D'Alberton, S Vissani, C Ferracuti, ... Sexual Development 12 (1-3), 158-158, 2018 | | 2018 |
First FGF9 mutation in a patient with a disorder of sex development D Bird, M Ono, S Eggers, B Croft, S Bagheri-Fam, J Ryan, A Kueh, ... CLINICAL ENDOCRINOLOGY 86, 33-33, 2017 | | 2017 |
Front & Back Matter T Ohnesorg, B Croft, J Tan, AH Sinclair, C Göppert, RM Harris, A Theis, ... Sexual Development 10 (2), 2016 | | 2016 |