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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

Abdelhamed, ZA, Ryan, TA, Fuller, M et al. (9 more authors) (2018) Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma. International Journal of Gynecological Cancer, 28 (8). pp. 1535-1544. ISSN 1048-891X

Adams, M, Cookson, VJ, Higgins, J et al. (5 more authors) (2014) A high-throughput assay to identify modifiers of premature chromosome condensation. Journal of Biomolecular Screening, 19 (1). pp. 176-183. ISSN 1087-0571

Al-Amri, A, Saegh, AA, Al-Mamari, W et al. (6 more authors) (2016) Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. American Journal of Medical Genetics Part A, 170 (7). pp. 1826-1831. ISSN 1552-4825

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

Alsiary, R, Brownhill, SC, Brüning-Richardson, A orcid.org/0000-0002-9862-9805 et al. (6 more authors) (2018) Expression analysis of the MCPH1/BRIT1 and BRCA1 tumor suppressor genes and telomerase splice variants in epithelial ovarian cancer. Gene, 672. pp. 34-44. ISSN 1879-0038

Alsiary, R, Brüning-Richardson, A, Bond, J et al. (3 more authors) (2014) Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression. PLoS ONE, 9 (5). e97059. ISSN 1932-6203

Antanaviciute, A, Watson, CM orcid.org/0000-0003-2371-1844, Harrison, SM et al. (5 more authors) (2015) OVA: Integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. Bioinformatics, 31 (23). pp. 3822-3829. ISSN 1367-4803

Arno, G, Agrawal, SA, Eblimit, A et al. (27 more authors) (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics, 99 (6). pp. 1305-1315. ISSN 0002-9297

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

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

Bell, SM orcid.org/0000-0002-3022-9864, Kelly, SA, Hoyle, JA et al. (5 more authors) (1991) c-Ki-ras gene mutations in dysplasia and carcinomas complicating ulcerative colitis. British Journal of Cancer, 64 (1). pp. 174-178. ISSN 0007-0920

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

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

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

Bruel, A-L, Franco, B, Duffourd, Y et al. (49 more authors) (2017) Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6). pp. 371-380. ISSN 0022-2593

Bruning-Richardson, A orcid.org/0000-0002-9862-9805, Bond, J orcid.org/0000-0001-5390-5688, Alsiary, R et al. (9 more authors) (2011) ASPM and microcephalin expression in epithelial ovarian cancer correlates with tumour grade and survival. British Journal of Cancer, 104 (10). pp. 1602-1610. ISSN 0007-0920

Brüning-Richardson, A, Bond, J, Alsiary, R et al. (9 more authors) (2012) NuMA overexpression in epithelial ovarian cancer. PLoS One, 7 (6). ARTN e38945. e38945 - ?. ISSN 1932-6203

Carr, IM orcid.org/0000-0001-9544-1068, Diggle, CP, Khan, K et al. (8 more authors) (2012) Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype. PLoS One, 7 (8). ARTN e43466. ISSN 1552-4973

Cawkwell, L, Bell, SM orcid.org/0000-0002-3022-9864, Lewis, FA et al. (3 more authors) (1993) Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology. British Journal of Cancer, 67 (6). pp. 1262-1267. ISSN 0007-0920

Chapman, LM, Spies, N, Pai, P et al. (21 more authors) (2020) A crowdsourced set of curated structural variants for the human genome. PLOS Computational Biology, 16 (6). e1007933. ISSN 1553-734X

Dent, J, Hall, GD, Wilkinson, N et al. (5 more authors) (2003) Cytogenetic alterations in ovarian clear cell carcinoma detected by comparative genomic hybridisation. British Journal of Cancer, 88 (10). pp. 1578-1583. ISSN 0007-0920

Di Martino, E, Ali, M orcid.org/0000-0003-3204-3788 and Inglehearn, CF orcid.org/0000-0002-5143-2562 (2019) Matrix metalloproteinases in keratoconus - too much of a good thing? Experimental Eye Research, 182. pp. 137-143. ISSN 0014-4835

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

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

Gai, M, Bianchi, FT, Vagnoni, C et al. (13 more authors) (2016) ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules. EMBO Reports, 17 (10). pp. 1361-1497. ISSN 1469-221X

Hallam, D, Collin, J, Bojic, S et al. (17 more authors) (2017) An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age‐Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure. Stem Cells, 35 (11). pp. 2305-2320. ISSN 1066-5099

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2023) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics. ISSN 0022-2593

Hartill, V, Szymanska, K orcid.org/0000-0001-7736-5225, Malik Sharif, S et al. (2 more authors) (2017) Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances. Frontiers in Pediatrics, 5. 244. ISSN 2296-2360

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Hirji, N, Bradley, PD, Li, S et al. (10 more authors) (2018) Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. AMERICAN JOURNAL OF OPHTHALMOLOGY, 188. pp. 123-130. ISSN 0002-9394

Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151

Johnson, CA orcid.org/0000-0002-2979-8234 and Collis, SJ (2016) Ciliogenesis and the DNA damage response: A stressful relationship. Cilia, 5 (1). 19.

Johnson, CA orcid.org/0000-0002-2979-8234 and Malicki, JJ (2019) The Nuclear Arsenal of Cilia. Developmental Cell, 49 (2). pp. 161-170. ISSN 1534-5807

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

Kennedy, H, Haack, TB, Hartill, V et al. (32 more authors) (2016) Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics. ISSN 0002-9297

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

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

Khan, KN, Robson, A, Mahroo, OAR et al. (13 more authors) (2018) A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics, 26. pp. 687-694. ISSN 1018-4813

Klaus, K, Butler, K, Durrant, SJ et al. (5 more authors) (2017) The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress. Brain and Behavior, 7 (5). e00695. ISSN 2162-3279

Lee, CS, Lee, AY, Baughman, D et al. (22 more authors) (2017) The United Kingdom Diabetic Retinopathy Electronic Medical Record Users Group: Report 3: Baseline Retinopathy and Clinical Features Predict Progression of Diabetic Retinopathy. American Journal of Ophthalmology, 180. pp. 64-71. ISSN 0002-9394

Logan, CV, Cossins, J, Cruz, PMR et al. (16 more authors) (2015) Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. American Journal of Human Genetics, 97 (6). pp. 878-885. ISSN 0002-9297

Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736

Lorés-Motta, L, Riaz, M, Grunin, M et al. (31 more authors) (2018) Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration. JAMA Ophthalmology, 136 (8). pp. 875-884. ISSN 2168-6165

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Malicki, JJ and Johnson, CA orcid.org/0000-0002-2979-8234 (2017) The Cilium: Cellular Antenna and Central Processing Unit. Trends in Cell Biology, 27 (2). pp. 126-140. ISSN 0962-8924

Martin, HL, Smith, L and Tomlinson, DC (2014) Multidrug-resistant breast cancer: Current perspectives. Breast Cancer: Targets and Therapy, 6. 1 - 13. ISSN 1179-1314

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

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

Merrick, AE, Errington, F orcid.org/0000-0003-2155-534X, Milward, K et al. (8 more authors) (2005) Immunosuppressive effects of radiation on human dendritic cells: reduced IL-12 production on activation and impairment of naïve T-cell priming. British Journal of Cancer, 92 (8). pp. 1450-1458. ISSN 0007-0920

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

Molinari, E, Decker, E, Mabillard, H et al. (12 more authors) (2018) Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European Journal of Human Genetics, 26 (12). pp. 1791-1796. ISSN 1018-4813

Parrish, A, Caswell, R, Jones, G et al. (3 more authors) (2017) An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth [version 1; peer review: 1 approved, 1 approved with reservations]. Wellcome Open Research, 2. 49. ISSN 2398-502X

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297

Parry, DA, Holmes, TD, Gamper, N orcid.org/0000-0001-5806-0207 et al. (12 more authors) (2016) A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. Journal of Allergy and Clinical Immunology, 137 (3). pp. 955-957. ISSN 0091-6749

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

Poulter, JA, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

Poulter, JA orcid.org/0000-0003-2048-5693, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (6 more authors) (2014) Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 23 (20). pp. 5317-5324. ISSN 0964-6906

Poulter, JA, Smith, CEL, Murrillo, G et al. (9 more authors) (2015) A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine, 3 (6). pp. 543-549.

Ramprasad, VL, Soumittra, N, Nancarrow, D et al. (7 more authors) (2008) Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. Molecular Vision, 10 (14). pp. 481-486. ISSN 1090-0535

Riches, K, Franklin, L, Maqbool, A et al. (10 more authors) (2013) Apolipoprotein(a) acts as a chemorepellent to human vascular smooth muscle cells via integrin αVβ3 and RhoA/ROCK-mediated mechanisms. The International Journal of Biochemistry and Cell Biology, 45 (8). 1776 - 1783. ISSN 1357-2725

Ryan, TA, Roper, KM, Bond, J et al. (3 more authors) (2018) A MAPK/c-Jun-mediated switch regulates the initial adaptive and cell death responses to mitochondrial damage in a neuronal cell model. The International Journal of Biochemistry and Cell Biology, 104. pp. 73-86. ISSN 1357-2725

Savic, S, Parry, D, Carter, C et al. (7 more authors) (2015) A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. Journal of Allergy and Clinical Immunology, 136 (2). 502 - 505. ISSN 0091-6749

Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.

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

Sergouniotis, PI, Robson, AG, El-Asrag, ME et al. (7 more authors) (2017) Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype. Lancet, 389. p. 14. ISSN 0140-6736

Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X

Shevach, E, Ali, M orcid.org/0000-0003-3204-3788, Mizrahi-Meissonnier, L et al. (9 more authors) (2015) Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa. JAMA Ophthalmology, 133 (3). pp. 312-318. ISSN 2168-6165

Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376

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

Slaats, GG, Wheway, G, Foletto, V et al. (9 more authors) (2015) Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. Journal of Cell Science, 128 (24). pp. 4550-4559. ISSN 0021-9533

Smith, CEL orcid.org/0000-0001-8320-5105, Kirkham, J, Day, PF orcid.org/0000-0001-9711-9638 et al. (6 more authors) (2017) A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities. Frontiers in Physiology, 8. 333. ISSN 1664-042X

Smith, CEL orcid.org/0000-0001-8320-5105, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (5 more authors) (2016) Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 25 (16). pp. 3578-3587. ISSN 0964-6906

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Antanaviciute, A et al. (4 more authors) (2017) Amelogenesis Imperfecta; Genes, Proteins And Pathways. Frontiers in Physiology, 8. 435. ISSN 1664-042X

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (8 more authors) (2019) Phenotype and variant spectrum in the LAMB3 form of amelogenesis imperfecta. Journal of Dental Research, 98 (6). pp. 698-704. ISSN 0022-0345

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

Smith, CEL orcid.org/0000-0001-8320-5105, Whitehouse, LLE, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2017) Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 25 (8). pp. 1015-1019. ISSN 1018-4813

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

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

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

Walker, L, Watson, CM orcid.org/0000-0003-2371-1844, Hewitt, S et al. (3 more authors) (2019) An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities. Journal of Obstetrics and Gynaecology, 39 (3). pp. 328-334. ISSN 0144-3615

Wangtiraumnuay, N, Alnabi, WA, Tsukikawa, M et al. (5 more authors) (2018) Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. Ophthalmic Genetics, 39 (3). pp. 384-390. ISSN 1381-6810

Watson, CM orcid.org/0000-0003-2371-1844, Crinnion, LA orcid.org/0000-0003-4805-5353, Hewitt, S et al. (6 more authors) (2020) Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. Laboratory Investigation, 100 (1). pp. 135-146. ISSN 0023-6837

Watson, CM orcid.org/0000-0003-2371-1844, Dean, P, Camm, N et al. (4 more authors) (2020) Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome. Human Mutation, 41 (2). pp. 525-531. ISSN 1059-7794

Watson, CM orcid.org/0000-0003-2371-1844, Stockdale, C, Berry, I et al. (5 more authors) (2019) RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. Journal of Clinical Immunology, 39 (3). pp. 270-273. ISSN 0271-9142

Watson, C.M. orcid.org/0000-0003-2371-1844, Nadat, F., Ahmed, S. et al. (4 more authors) (2022) Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. Genes and Immunity, 23. pp. 66-72. ISSN 1466-4879

Watson, CM orcid.org/0000-0003-2371-1844, Crinnion, LA, Lindsay, H et al. (9 more authors) (2021) Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions. Laboratory Investigation, 101 (4). pp. 442-449. ISSN 0023-6837

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

Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X

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

van Dam, TJP, Kennedy, J, van der Lee, R et al. (45 more authors) (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PloS one, 14 (5). ARTN: e0216705.

Proceedings Paper

Lako, M, Buskin, A, Zhu, L et al. (12 more authors) (2018) Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa. In: Investigative Ophthalmology & Visual Science. ARVO Annual Meeting 2018, 29 Apr - 03 May 2018, Honolulu, Hawaii, USA. Association for Research in Vision and Ophthalmology .

Other

Johnson, CA orcid.org/0000-0002-2979-8234 (2019) Obituary: Jarema Malicki (1965-2019). Company of Biologists.