Evidence-based information guides to rare chromosome disorders for families and professionals

por Searle, Beverly, Middlemiss, Prisca, Wynn, Sarah, Hulten, Maj
Publicado 2010

Transformation of resident notochord‐descendent nucleus pulposus cells in mouse injury‐induced fibrotic intervertebral discs

por Au, Tiffany Y. K., Lam, To‐Kam, Peng, Yan, Wynn, Sarah L., Cheung, Kenneth M. C., Cheah, Kathryn S. E., Leung, Victor Y. L.
Publicado 2020

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

por Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Wynn, Sarah, Ford, Tamsin, Baker, Kate, Chawner, Samuel J R A, Hall, Jeremy, van den Bree, Marianne B M, Owen, Michael J, Skuse, David, Raymond, F Lucy
Publicado 2022

SOX9 Governs Differentiation Stage-Specific Gene Expression in Growth Plate Chondrocytes via Direct Concomitant Transactivation and Repression

por Leung, Victor Y. L., Gao, Bo, Leung, Keith K. H., Melhado, Ian G., Wynn, Sarah L., Au, Tiffany Y. K., Dung, Nelson W. F., Lau, James Y. B., Mak, Angel C. Y., Chan, Danny, Cheah, Kathryn S. E.
Publicado 2011

Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog–Wnt signaling, causing campomelia

por Au, Tiffany Y. K., Yip, Raymond K. H., Wynn, Sarah L., Tan, Tiong Y., Fu, Alex, Geng, Yu Hong, Szeto, Irene Y. Y., Niu, Ben, Yip, Kevin Y., Cheung, Martin C. H., Lovell-Badge, Robin, Cheah, Kathryn S. E.
Publicado 2022

SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms

por Szeto, Irene Y. Y., Chu, Daniel K. H., Chen, Peikai, Chu, Ka Chi, Au, Tiffany Y. K., Leung, Keith K. H., Huang, Yong-Heng, Wynn, Sarah L., Mak, Angel C. Y., Chan, Ying-Shing, Chan, Wood Yee, Jauch, Ralf, Fritzsch, Bernd, Sham, Mai Har, Lovell-Badge, Robin, Cheah, Kathryn S. E.
Publicado 2022

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service

por Hill, Melissa, Ellard, Sian, Fisher, Jane, Fulop, Naomi, Knight, Marian, Kroese, Mark, Ledger, Jean, Leeson-Beevers, Kerry, McEwan, Alec, McMullan, Dominic, Mellis, Rhiannon, Morris, Stephen, Parker, Michael, Tapon, Dagmar, Baple, Emma, Blackburn, Laura, Choudry, Asya, Lafarge, Caroline, McInnes-Dean, Hannah, Peter, Michelle, Ramakrishnan, Rema, Roberts, Lauren, Searle, Beverly, Smith, Emma, Walton, Holly, Wynn, Sarah L., Han Wu, Wing, Chitty, Lyn S.
Publicado 2022