Items where authors include "Toomes, C"

Article

McClinton, B, Watson, CM, Crinnion, LA et al. (4 more authors) (2023) Haplotyping Using Long-Range PCR and Nanopore Sequencing of Phase Variants; Lessons Learned From the ABCA4 Locus. Laboratory Investigation, 103 (8). 100160. ISSN 0023-6837

McClinton, B, Crinnion, LA, McKibbin, M et al. (7 more authors) (2023) Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. Molecular Genetics and Genomic Medicine, 11 (6). e2164. ISSN 2324-9269

Inglehearn, CF orcid.org/0000-0002-5143-2562, Yahya, S orcid.org/0000-0002-3710-1011, Smith, CEL orcid.org/0000-0001-8320-5105 et al. (7 more authors) (2023) Reply. Ophthalmology, 130 (3). e9-e10. ISSN 0161-6420

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

Mc Clinton, B, Corradi, Z, McKibbin, M et al. (10 more authors) (2023) Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes, 14 (1). 191. ISSN 2073-4425

Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535

El-Asrag, ME, Corton, M, McKibbin, M et al. (7 more authors) (2022) Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. Molecular Vision, 28. pp. 48-56. ISSN 1090-0535

Taylor, RL, Soriano, CS, Williams, S et al. (9 more authors) (2022) Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia. Orphanet Journal of Rare Diseases, 17. 110. ISSN 1750-1172

Best, S, Inglehearn, CF orcid.org/0000-0002-5143-2562, Watson, CM orcid.org/0000-0003-2371-1844 et al. (3 more authors) (2022) Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190 (1). pp. 5-8. ISSN 1552-4868

Hardcastle, AJ, Liskova, P, Bykhovskaya, Y et al. (59 more authors) (2021) A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications Biology, 4 (1). 266. ISSN 2399-3642

Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176, Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794

Burgess, SJ, Gibbs, H, Toomes, C orcid.org/0000-0001-8373-9545 et al. (2 more authors) (2021) The Role of Csmd1 during Mammary Gland Development. Genes, 12 (2). 162. ISSN 2073-4425

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12). pp. 2041-2051. ISSN 1098-3600

Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105, Karali, M et al. (24 more authors) (2019) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (6). pp. 1319-1329. ISSN 1098-3600

Abdelhamed, ZA, Abdelmottaleb, DI, El-Asrag, ME et al. (5 more authors) (2019) The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. Scientific Reports, 9. 5446. ISSN 2045-2322

Van de Sompele, S, Smith, C, Karali, M et al. (24 more authors) (2019) Correction to: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (4). p. 1028. ISSN 1098-3600

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

Khan, KN, Lord, EC orcid.org/0000-0001-9216-7382, Arno, G et al. (10 more authors) (2018) Detailed Retinal Imaging In Carriers Of Ocular Albinism. Retina, 38 (3). pp. 620-628. ISSN 1539-2864

Astuti, G, van den Born, L, Khan, M et al. (14 more authors) (2018) Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes, 9 (1). p. 21. ISSN 2073-4425

Mughal, S, Moghul, I, Yu, J et al. (28 more authors) (2017) Pheno4J: A gene to phenotype graph database. Bioinformatics, 33 (20). pp. 3317-3319. ISSN 1367-4803

Kamal, M, Holliday, DL, Morrison, EE et al. (3 more authors) (2017) Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion. Oncology Reports, 38 (1). pp. 283-292. ISSN 1021-335X

Panagiotou, ES, Sanjurjo Soriano, C, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (15 more authors) (2017) Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. The American Journal of Human Genetics, 100 (6). pp. 960-968. ISSN 0002-9297

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology, 135 (4). pp. 339-347. ISSN 2168-6165

Bedoni, N, Haer-Wigman, L, Vaclavik, V et al. (28 more authors) (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555. ISSN 0964-6906

Sergouniotis, PI, McKibbin, M, Robson, AG et al. (14 more authors) (2015) Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Investigative Ophthalmology & Visual Science, 56 (13). pp. 8083-8090. ISSN 0146-0404

Wheway, G, Schmidts, M, Mans, DA et al. (75 more authors) (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17 (8). pp. 1074-1087. ISSN 1465-7392

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

Abdelhamed, ZA, Natarajan, S, Wheway, G et al. (4 more authors) (2015) The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Disease models & mechanisms, 8 (6). 527 - 541. ISSN 1754-8403

Ravesh, Z, El Asrag, ME, Weisschuh, N et al. (18 more authors) (2015) Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Molecular Vision, 21. 236 - 243. ISSN 1090-0535

Siddiqui, S, Zenteno, JC, Rice, A et al. (8 more authors) (2014) Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea, 33 (3). 247 - 251. ISSN 0277-3740

Watson, CM, El-Asrag, M, Parry, DA et al. (11 more authors) (2014) Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PLoS One, 9 (8). 0104281. ISSN 1932-6203

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Al-Araimi, M, Pal, B, Poulter, JA et al. (10 more authors) (2013) A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Molecular Vision, 19. 2165 - 2172. ISSN 1090-0535

Khan, K, Logan, CV, McKibbin, M et al. (18 more authors) (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics, 21 (4). pp. 776-783. ISSN 0964-6906

Preprint

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint]