Items where authors include "Crinnion, LA"

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Number of items: 18.

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

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

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

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

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

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

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

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.

This list was generated on Sat Mar 23 12:27:38 2024 GMT.