Items where authors include "Harrison, SM"

Article

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

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

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

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.

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

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

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