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Article

Baquero-Perez, B, Antanaviciute, A, Yonchev, ID et al. (3 more authors) (2019) The Tudor SND1 protein is an m6A RNA reader essential for replication of Kaposi’s sarcoma-associated herpesvirus. eLife, 8. e47261. ISSN 2050-084X

Watson, CM orcid.org/0000-0003-2371-1844, Crinnion, LA, Hewitt, S et al. (6 more authors) (2019) Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. Laboratory Investigation. 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

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

Marques, P, Spencer, R, Morrison, PJ et al. (5 more authors) (2018) Cantú syndrome with coexisting familial pituitary adenoma. Endocrine, 59 (3). pp. 677-684. ISSN 1355-008X

Brocklehurst, S, Watson, M, Carr, IM orcid.org/0000-0001-9544-1068 et al. (3 more authors) (2018) Induction of epigenetic variation in Arabidopsis by over-expression of DNA METHYLTRANSFERASE1 (MET1). PLoS ONE, 13 (2). e0192170. ISSN 1932-6203

Karamendin, K, Kydyrmanov, A, Kasymbekov, Y et al. (9 more authors) (2017) Novel avian paramyxovirus isolated from gulls in Caspian seashore in Kazakhstan. PLoS ONE, 12 (12). e0190339. ISSN 1932-6203

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

Mahil, SK, Catapano, M, Di Meglio, P et al. (10 more authors) (2017) An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target. Science Translational Medicine, 9 (411). eaan2514. ISSN 1946-6234

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

Hull, MA orcid.org/0000-0001-7414-1576, Cuthbert, RJ orcid.org/0000-0002-9054-5260, Ko, CWS et al. (9 more authors) (2017) Paracrine cyclooxygenase-2 activity by macrophages drives colorectal adenoma progression in the Apc Min/+ mouse model of intestinal tumorigenesis. Scientific Reports, 7 (1). 6074. pp. 1-14. ISSN 2045-2322

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

Kotan, LD, Cooper, C, Darcan, Ş et al. (12 more authors) (2016) Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. Journal of Clinical Research in Pediatric Endocrinology, 8 (2). pp. 125-134. ISSN 1308-5727

Karamendin, K, Kydyrmanov, A, Seidalina, A et al. (9 more authors) (2016) Complete Genome Sequence of a Novel Avian Paramyxovirus (APMV-13) Isolated from a Wild Bird in Kazakhstan. Genome Announcements, 4 (3). e00167-16.

Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297

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

Melnik, S, Caudron-Herger, M, Brant, L et al. (4 more authors) (2016) Isolation of the protein and RNA content of active sites of transcription from mammalian cells. Nature Protocols, 11 (3). pp. 553-565. ISSN 1754-2189

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

Giancane, G, Diggle, CP, Legger, EG et al. (7 more authors) (2015) Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. Journal of Rheumatology, 42 (11). 2211 - 2214. ISSN 0315-162X

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

Antanaviciute, A, Watson, CM, 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

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

Fiszer, D, Shaw, MA, Fisher, NA et al. (6 more authors) (2015) Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology, 122 (5). 1033 - 1046. ISSN 0003-3022

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

Diggle, CP, Moore, DJ, Mali, G et al. (21 more authors) (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, 10 (9). ARTN e1004577. ISSN 1553-7390

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

Touqan, N, Diggle, CP, Verghese, ET et al. (7 more authors) (2013) An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas. BMC Clinical Pathology, 13 (1). 32. pp. 1-9. ISSN 1472-6890

Ingram, N, Macnab, SA, Marston, G et al. (5 more authors) (2013) The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors. BMC Medical Imaging, 13 (1). 1 - 9. ISSN 1471-2342

Crabtree, JE, Jeremy, AHT, Duval, C et al. (5 more authors) (2013) Effects of EGFR inhibitor on helicobacter pylori induced gastric epithelial pathology in vivo. Pathogens, 2 (4). 4. 571 - 590. ISSN 2076-0817

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

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

Robinson, JI, Carr, IM, Cooper, DL et al. (9 more authors) (2012) Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis. Human Mutation, 33 (4). 741 - 749 . ISSN 1059-7794

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

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

Melnik, S, Deng, B, Papantonis, A et al. (3 more authors) (2011) The proteomes of transcription factories containing RNA polymerases I, II or III. Nature Methods, 8 (11). pp. 963-968. ISSN 1548-7091

Dimitriou, R, Carr, IM orcid.org/0000-0001-9544-1068, West, RM orcid.org/0000-0001-7305-3654 et al. (2 more authors) (2011) Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway. BMC Musculoskeletal Disorders, 12. 44. ISSN 1471-2474

Pardo, CE, Carr, IM orcid.org/0000-0001-9544-1068, Hoffman, CJ et al. (4 more authors) (2011) MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects. Nucleic Acids Research, 39 (1). e5. ISSN 0305-1048

Carr, IM, Valleley, EMA, Cordery, SF et al. (2 more authors) (2007) Sequence analysis and editing for bisulphite genomic sequencing projects. Nucleic Acids Research, 35 (10). e79. ISSN 0305-1048

Leek, J, Lench, N, Maraj, B et al. (8 more authors) (1995) Prostate-specific membrane antigen: evidence for the existence of a second related human gene. British Journal of Cancer, 72 (3). pp. 583-588. ISSN 0007-0920

Proceedings Paper

Tiganescu, A orcid.org/0000-0003-3688-2204, Farraj, LA, Carr, IM orcid.org/0000-0001-9544-1068 et al. (6 more authors) (2016) 11 beta-hydroxysteroid dehydrogenase type 1 mediates anti-inflammatory, pro-inflammatory and inflammation-independent effects in primary human dermal fibroblasts. In: British Journal of Dermatology. British Skin Foundation, Skin Deep - 20 Years of Research, 20th Anniversary Conference, 13 Oct 2016, London, United Kingdom. Wiley , p. 64.

Palmer, TG, Wood, HM, Taylor, M et al. (3 more authors) (2015) Are Current Automated Approaches for Determining the Phylogeny of Multiple Deposits Capable of Interpreting the Complexity of Cancer Evolution? In: Journal of Pathology. Dublin Pathology 2015. 8th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 23-25 Jun 2015, Dublin, Ireland. Wiley , S27-S27.

This list was generated on Sun Nov 24 23:14:22 2019 GMT.