photo of Jocelyn Van Den Bergen

Jocelyn Van Den Bergen

Jocelyn Van Den Bergen

Details

Role Research Assistant
Research area Genomic Medicine

Top Publications

  • Bakhshalizadeh, S, Afkhami, F, Bell, KM, Robevska, G, van den Bergen, J, Cronin, S, Jaillard, S, Ayers, KL, Kumar, P, Siebold, C, et al. Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.. Mol Cell Endocrinol 587: 112212 2024
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  • Ferreira, LGA, Cabral-da-Silva, MC, Pachernegg, S, van den Bergen, JA, Robevska, G, Vlahos, K, Howden, SE, Ng, ES, Dias-da-Silva, MR, Sinclair, AH, et al. Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.. Stem Cell Res 76: 103374 2024
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  • Bakhshalizadeh, S, Bird, AD, Sreenivasan, R, Bell, KM, Robevska, G, van den Bergen, J, Asghari-Jafarabadi, M, Kueh, AJ, Touraine, P, Lokchine, A, et al. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.. Genes (Basel) 15(3) : 2024
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  • B, C, T, O, J, H, J, B, A, Q, J, T, V, C, E, P, J, VDB, R, S, et al. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 2024
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  • Bakhshalizadeh, S, Hock, DH, Siddall, NA, Kline, BL, Sreenivasan, R, Bell, KM, Casagranda, F, Kamalanathan, S, Sahoo, J, Narayanan, N, et al. Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.. Hum Genet 142(7) : 879 -907 2023
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