Research output per year
Research output per year
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Dive into the research topics where Veronica Van Heyningen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, H. N., Bengani, H., Hufnagel, R. B., Damante, G., Ansari, M., Marsh, J. A., Grimes, G. R., Kriegsheim, A. V., Moore, D., McKie, L., Rahmat, J., Mio, C., Blyth, M., Keng, W. T., Islam, L., McEntargart, M., Mannens, M. M., Heyningen, V. V., Rainger, J., Brooks, B. P., & 1 others, Nov 2022, In: PLoS ONE. 17, 11, p. 1-21 20 p., e0268149.Research output: Contribution to journal › Article › peer-review
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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
Bengani, H., Grozeva, D., Moyon, L., Bhatia, S., Louros, S. R., Hope, J., Jackson, A., Prendergast, J. G., Owen, L. J., Naville, M., Rainger, J., Grimes, G., Halachev, M., Murphy, L. C., Spasic-Boskovic, O., van Heyningen, V., Kind, P., Abbott, C. M., Osterweil, E., Raymond, F. L., & 2 others, 13 Aug 2021, (E-pub ahead of print) In: PLoS ONE. 16, 8, e0256181.Research output: Contribution to journal › Article › peer-review
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
Williamson, K., Hall, H. N., Owen, L., Livesey, B., Hanson, I., Adams, G. G. W., Bodek, S., Calvas, P., Castle, B., Clarke, M., Deng, A. T., Edery, P., Fisher, R., Gillessen-Kaesbach, G., Héon, E., Hurst, J., Josifova, D., Lorenz, B., McKee, S., Meire, F., & 11 others, 8 Nov 2019, In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
Rainger, J., Williamson, K., Soares, D., Truch, J., Thekkedath Kurian, D., Gillessen-Kaesbach, G., Seawright, A., Prendergast, J., Halachev, M., Wheeler, A., McTeir, L., Gill, A., Van Heyningen, V., Davey, M., UK10K & FitzPatrick, D. R., Aug 2017, In: Human Mutation: Variation, Informatics and Disease. 38, 8, p. 942-946Research output: Contribution to journal › Article › peer-review
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., & 58 others, Feb 2017, In: Nature Genetics. 49, 2, p. 238-248 11 p.Research output: Contribution to journal › Article › peer-review
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Projects
- 14 Finished
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CROATIA PROGRAMME
Wright, A., Adams, I., Aligianis, I., Baldock, R., Bickmore, W., Caceres, J., Dorin, J., Dunlop, M., FitzPatrick, D., Haley, C., Hastie, N., Hill, B., Jackson, I., Jackson, A., Kudla, G., Meehan, R., O'Connell, M., Overton, I., Patton, E., Taylor, M., Tenesa, A. & Van Heyningen, V.
1/04/12 → 31/07/13
Project: Research
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