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Sreenivasan, R, Bell, K, van den Bergen, J, Robevska, G, Belluoccio, D, Dahiya, R, Leong, GM, Dulon, J, Touraine, P, Tucker, EJ, et al.
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development..
Mol Cell Endocrinol
546:
111570
2022
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Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans..
Hum Mol Genet
31(3)
:
362 -375
2022
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Tucker, EJ, Bell, KM, Robevska, G, van den Bergen, J, Ayers, KL, Listyasari, N, Faradz, SM, Dulon, J, Bakhshalizadeh, S, Sreenivasan, R, et al.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes..
Eur J Hum Genet
30(2)
:
219 -228
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..
Hum Genet
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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