Items where authors include "Watson, CM"

Article

Walker, K orcid.org/0000-0002-6694-2979, Mistry, A, Watson, CM et al. (9 more authors) (2023) Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12. Journal of Clinical Immunology, 43. pp. 1543-1556. ISSN 0271-9142

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

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

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

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

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

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

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, 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, 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

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

Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. ISSN 0002-9297

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

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

Watson, CM, Camm, N, Crinnion, LA et al. (7 more authors) (2017) Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. Molecular Diagnosis and Therapy, 21 (6). pp. 685-692. ISSN 1177-1062

Watson, CM, Camm, N, Crinnion, LA et al. (6 more authors) (2017) Characterization and Genomic Localization of a SMAD4 Processed Pseudogene. Journal of Molecular Diagnostics, 19 (6). pp. 933-940. ISSN 1525-1578

Antanaviciute, A, Baquero-Perez, B, Watson, CM et al. (7 more authors) (2017) m6aViewer: software for the detection, analysis and visualization of N6-methyl-adenosine peaks from m6A-seq/ME-RIP sequencing data. RNA, 23 (10). pp. 1493-1501. ISSN 1355-8382

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

Diggle, CP orcid.org/0000-0001-6861-359X, Martinez-Garay, I, Molnar, Z et al. (17 more authors) (2017) A Tubulin Alpha 8 Mouse Knockout Model Indicates a Likely Role in Spermatogenesis but Not in Brain Development. PLoS ONE, 12 (4). e0174264.

Watson, CM, Crinnion, LA, Harrison, SM et al. (5 more authors) (2016) A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PLoS Neglected Tropical Diseases, 11 (6). e0157075. ISSN 1932-6203

Watson, CM, Crinnion, LA, Murphy, H et al. (8 more authors) (2016) Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Journal of Medical Genetics, 53 (4). pp. 264-269. ISSN 0022-2593

Watson, CM, Crinnion, LA, Berry, IR et al. (7 more authors) (2016) Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. BMC Medical Genetics, 17. 1. ISSN 1471-2350

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

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.

Watson, CM, Crinnion, LA, Gurgel-Gianetti, J et al. (8 more authors) (2015) Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. Human Mutation, 36 (9). pp. 823-830. ISSN 1059-7794

Burghel, GJ, Hurst, CD, Watson, CM et al. (4 more authors) (2015) Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. BioMed Research International, 2015. 478017. ISSN 2314-6133

Antanaviciute, A, Daly, C, Crinnion, LA et al. (4 more authors) (2015) GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. Bioinformatics (Oxford, England). ISSN 1367-4803

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

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

Watson, CM, Crinnion, LA, Morgan, JE et al. (10 more authors) (2014) Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Human Mutation, 35 (4). 434 - 441. ISSN 1059-7794

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

Conference or Workshop Item

Sheridan, EG orcid.org/0000-0002-7237-6280, Bonnefoy, S, Watson, CM et al. (17 more authors) (2019) Biallelic Mutations in LRRC56, encoding a protein associated with intraflagellar transport, causes defects in mucociliary clearance and laterality. In: 51st European Society of Human Genetics Conference, 16-19 Jun 2018, Milan, Italy.

Proceedings Paper

Watson, CM, Crinnion, LA, Bates, J et al. (6 more authors) (2019) A third generation long-read sequencing approach for the analysis of genomic duplication variants, at nucleotide resolution, using Cas9 target enrichment. In: European Journal of Human Genetics. 52nd European Society of Human Genetics, 15-18 Jun 2019, Gothenberg, Sweden. Springer Nature , pp. 1664-1665.