| Premature ovarian insufficiency in CLPB deficiency: Transcriptomic, proteomic and phenotypic insights EJ Tucker, MJ Baker, DH Hock, JT Warren, S Jaillard, KM Bell, ... The Journal of Clinical Endocrinology & Metabolism 107 (12), 3328-3340, 2022 | 18 | 2022 |
| Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency EJ Tucker, N Gutfreund, MA Belaud‐Rotureau, D Gilot, T Brun, BL Kline, ... Human Mutation 43 (10), 1443-1453, 2022 | 12 | 2022 |
| Integral role of the mitochondrial ribosome in supporting ovarian function: MRPS7 variants in syndromic premature ovarian insufficiency BL Kline, S Jaillard, KM Bell, S Bakhshalizadeh, G Robevska, ... Genes 13 (11), 2113, 2022 | 10 | 2022 |
| Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency S Bakhshalizadeh, DH Hock, NA Siddall, BL Kline, R Sreenivasan, ... Human Genetics 142 (7), 879-907, 2023 | 8 | 2023 |
| Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency EJ Tucker, MF Sharp, A Lokchine, KM Bell, CS Palmer, BL Kline, ... Clinical Genetics, 2024 | | 2024 |
