Details

Role Team Leader / Senior Research Officer

Research area Genomic Medicine

Group Reproductive Development

Top Publications

Tucker, EJ. The Genetics and Biology of FOXL2. Sexual Development 16(2-3) : 184 -193 2022
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Toujani, S, Tucker, EJ, Akloul, L, Mary, L, Pimentel, C, Launay, E, Freton, L, Jouve, G, Henry, C, Odent, S, et al. Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia. Cytogenetic and Genome Research 162(3) : 124 -131 2022
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Ullah, F, Rauf, W, Khan, K, Khan, S, Bell, KM, de Oliveira, VC, Tariq, M, Bakhshalizadeh, S, Touraine, P, Katsanis, N, et al. A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. Human Genetics 140(12) : 1733 -1751 2021
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Jaillard, S, Bell, K, Akloul, L, Walton, K, McElreavy, K, Stocker, WA, Beaumont, M, Harrisson, C, Jääskeläinen, T, Palvimo, JJ, et al. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. Maturitas 141: 9 -19 2020
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Tucker, EJ, Rius, R, Jaillard, S, Bell, K, Lamont, PJ, Travessa, A, Dupont, J, Sampaio, L, Dulon, J, Vuillaumier-Barrot, S, et al. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Human Genetics 139(10) : 1325 -1343 2020
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