A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

McEntagart, M., Williamson, K. A., Rainger, J. K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Lopaz Laso, E., Sanchez-Carpintero, R., Jesus, B., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L. & 17 others, Ceulemans, B., Meire, F., Temple, I. K., Prieur, F., Williams, J., Clouston, P., Németh, A. H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., DDD Study, van Heyningen, V., Marsh, J. A., Elmslie, F. & FitzPatrick, D. R., 5 May 2016, In: American Journal of Human Genetics. 98, 5, p. 981-992 12 p.

Research output: Contribution to journal › Article › peer-review

A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

Liu, C., Widen, S., Williamson, K., Ratnapriya, R., Gerth-Kahlert, C., Rainger, J., Alur, R., Strachan, E., Manjanath, S., Balakrishnan, A., Floyd, J., UK10K Consortium, Li, T., Waskiewicz, A., Brooks, B., Lehmann, O. J., FitzPatrick, D. & Swaroop, A., 1 Apr 2016, In: Human Molecular Genetics.

Research output: Contribution to journal › Article › peer-review

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

Fantes, J. A., Oghene, K., Boyle, S., Danes, S., Fletcher, J. M., Bruford, E. A., Williamson, K., Seawright, A., Schedl, A. & Hanson, I., 20 Jan 1995, In: Genomics. 25, 2, p. 447-61 15 p.

Research output: Contribution to journal › Article › peer-review

A new allele of the testosterone-responsive gene, Hdc-a, in the histidine decarboxylase gene complex of the mouse

Middleton, R. J., Williamson, K. & Bulfield, G., Dec 1987, In: Genetics Research. 50, 3, p. 213-7 5 p.

Research output: Contribution to journal › Article › peer-review

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Henderson, R. H., Williamson, K. A., Kennedy, J. S., Webster, A. R., Holder, G. E., Robson, A. G., FitzPatrick, D. R., van Heyningen, V. & Moore, A. T., Nov 2009, In: Molecular Vision. 15, 260, p. 2442-7 6 p.

Research output: Contribution to journal › Article › peer-review

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. 38, 8, p. 942-946

Research output: Contribution to journal › Article › peer-review

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

Aijaz, S., Clark, B. J., Williamson, K., van Heyningen, V., Morrison, D., Fitzpatrick, D., Collin, R., Ragge, N., Christoforou, A., Brown, A. & Hanson, I., Nov 2004, In: Investigative Ophthalmology & Visual Science. 45, 11, p. 3871-6 6 p.

Research output: Contribution to journal › Article › peer-review

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., Van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T. M. T., Texier, Y., Van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., Dougherty, G., Lamers, I. J. C., Coene, K. L. M., Arts, H. H., Betts, M. J., Beyer, T., Bolat, E., Gloeckner, C. J., Haidari, K., Hetterschijt, L. & 76 others, Iaconis, D., Jenkins, D., Klose, F., Knapp, B., Latour, B., Letteboer, S. J. F., Marcelis, C. L., Mitic, D., Morleo, M., Oud, M. M., Riemersma, M., Rix, S., Terhal, P. A., Toedt, G., Van Dam, T. J. P., De Vrieze, E., Wissinger, Y., Wu, K. M., Al-Turki, S., Anderson, C., Antony, D., Barroso, I., Bentham, J., Bhattacharya, S., Carss, K., Chatterjee, K., Cirak, S., Cosgrove, C., Danecek, P., Durbin, R., Fitzpatrick, D., Floyd, J., Foley, A. R., Franklin, C., Futema, M., Humphries, S. E., Hurles, M., Joyce, C., McCarthy, S., Mitchison, H. M., Muddyman, D., Muntoni, F., O'Rahilly, S., Onoufriadis, A., Payne, F., Plagnol, V., Raymond, L., Savage, D. B., Scambler, P., Schmidts, M., Schoenmakers, N., Semple, R., Serra, E., Stalker, J., Van Kogelenberg, M., Vijayarangakannan, P., Walter, K., Whittall, R., Williamson, K., Apic, G., Beales, P. L., Blacque, O. E., Gibson, T. J., Huynen, M. A., Katsanis, N., Kremer, H., Omran, H., Van Wijk, E., Wolfrum, U., Kepes, F., Davis, E. E., Franco, B., Giles, R. H., Ueffing, M., Russell, R. B. & Roepman, R., 13 May 2016, In: Nature Communications. 7, 11491.

Research output: Contribution to journal › Article › peer-review

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

Bamiou, D-E., Free, S. L., Sisodiya, S. M., Chong, W. K., Musiek, F., Williamson, K. A., van Heyningen, V., Moore, A. T., Gadian, D. & Luxon, L. M., 2007, In: Archives of pediatrics & adolescent medicine. 161, 5, p. 463-9 7 p.

Research output: Contribution to journal › Article › peer-review

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, UK10K Consortium & NIHR BioResource, 11 Apr 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

Research output: Contribution to journal › Article › peer-review