Items where authors include "Bonthron, DT"

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

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

Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273

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

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

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

Smith, CEL orcid.org/0000-0001-8320-5105, Alexandraki, A, Cordery, SF et al. (3 more authors) (2017) A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes. PLoS ONE, 12 (9). e0185678. ISSN 1932-6203

Shastin, D, Peacock, S, Guruswamy, V et al. (10 more authors) (2017) A proposal for a new classification of complications in craniosynostosis surgery. Journal of Neurosurgery: Pediatrics, 19 (6). pp. 675-683. ISSN 1933-0707

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.

Bonthron, DT orcid.org/0000-0001-8132-8179 and Foulkes, WD (2017) Genetics meets Pathology - an increasingly important relationship. Journal of Pathology, 241 (2). pp. 119-122. ISSN 0022-3417

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

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

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

Bonthron, DT (2015) HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics, 52 (12). pp. 797-803. ISSN 0022-2593

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

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

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

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 orcid.org/0000-0001-6861-359X, 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). e1004577. ISSN 1553-7390

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

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

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

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

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.