Items where authors include "Adlard, J"

Article

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

Westwood, A, Glover, A, Hutchins, G et al. (9 more authors) (2019) Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation. Journal of Clinical Pathology, 72 (6). pp. 443-447. ISSN 0021-9746

Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075

Whitworth, J, Smith, PS, Martin, J-E et al. (41 more authors) (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

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

O'Shea, SJ, Mitra, A, Graham, JL et al. (4 more authors) (2016) Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation. Journal of Cutaneous Pathology, 43 (3). pp. 287-289. ISSN 0303-6987

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

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.