Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
Watson, Christopher M., Holliday, Deborah L., Crinnion, Laura A., Bonthron, David T.
Published in Prenatal diagnosis (01.02.2022)
Published in Prenatal diagnosis (01.02.2022)
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Journal Article
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome
Watson, Christopher M, Crinnion, Laura A, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Bonthron, David T, Sheridan, Eamonn
Published in PloS one (07.06.2016)
Published in PloS one (07.06.2016)
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Journal Article
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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Journal Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Journal Article
Detection of somatic mutations in tumors using unaligned clonal sequencing data
Sutton, Kate M, Crinnion, Laura A, Wallace, David, Harrison, Sally, Roberts, Paul, Watson, Christopher M, Markham, Alexander F, Bonthron, David T, Quirke, Philip, Carr, Ian M
Published in Laboratory investigation (01.10.2014)
Published in Laboratory investigation (01.10.2014)
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Journal Article
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
McClinton, Benjamin, Watson, Christopher M., Crinnion, Laura A., McKibbin, Martin, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in Laboratory investigation (01.08.2023)
Published in Laboratory investigation (01.08.2023)
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Journal Article
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.
Published in Laboratory investigation (01.01.2020)
Published in Laboratory investigation (01.01.2020)
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Journal Article
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease
Watson, Christopher M., Nadat, Fatima, Ahmed, Sammiya, Crinnion, Laura A., O’Riordan, Sean, Carter, Clive, Savic, Sinisa
Published in Genes and immunity (01.04.2022)
Published in Genes and immunity (01.04.2022)
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Journal Article
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Journal Article
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Walker, Kieran, Mistry, Anoop, Watson, Christopher M., Nadat, Fatima, O’Callaghan, Eleanor, Care, Matthew, Crinnion, Laura A., Arumugakani, Gururaj, Bonthron, David T., Carter, Clive, Doody, Gina M., Savic, Sinisa
Published in Journal of clinical immunology (01.10.2023)
Published in Journal of clinical immunology (01.10.2023)
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Journal Article
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Watson, Christopher M., Crinnion, Laura A., Lindsay, Helen, Mitchell, Rowena, Camm, Nick, Robinson, Rachel, Joyce, Caroline, Tanteles, George A., Halloran, Domhnall J. O', Pena, Sergio D.J., Carr, Ian M., Bonthron, David T.
Published in Laboratory investigation (01.04.2021)
Published in Laboratory investigation (01.04.2021)
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Journal Article
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles
Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A, Markham, Alexander F, Watson, Christopher M, Bonthron, David T, Carr, Ian M
Published in Bioinformatics (15.08.2015)
Published in Bioinformatics (15.08.2015)
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Journal Article
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture
Watson, Christopher M., Crinnion, Laura A., Simmonds, Jennifer, Camm, Nick, Adlard, Julian, Bonthron, David T.
Published in Cancer genetics (01.08.2021)
Published in Cancer genetics (01.08.2021)
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Journal Article
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells
Yahya, Samar, Watson, Christopher M., Carr, Ian, McKibbin, Martin, Crinnion, Laura A., Taylor, Morag, Bonin, Hope, Fletcher, Tracy, El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.
Published in Molecular diagnosis & therapy (01.07.2023)
Published in Molecular diagnosis & therapy (01.07.2023)
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Journal Article
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities
Walker, Lesley, Watson, Christopher M, Hewitt, Sarah, Crinnion, Laura A, Bonthron, David T, Cohen, Kelly E
Published in Journal of obstetrics and gynaecology (03.04.2019)
Published in Journal of obstetrics and gynaecology (03.04.2019)
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Journal Article
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Watson, Christopher M., Stockdale, Claire, Berry, Ian, Crinnion, Laura A., Carr, Ian M., Cant, Andrew, Bonthron, David T., Savic, Sinisa
Published in Journal of clinical immunology (01.04.2019)
Published in Journal of clinical immunology (01.04.2019)
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Journal Article
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey
Published in Journal of medical genetics (01.04.2016)
Published in Journal of medical genetics (01.04.2016)
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Journal Article
Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Antanaviciute, Agne, Adlard, Julian, Markham, Alexander F., Carr, Ian M., Charlton, Ruth, Bonthron, David T.
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
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Journal Article
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data
Watson, Christopher M., Crinnion, Laura A., Gurgel-Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.
Published in Human mutation (01.09.2015)
Published in Human mutation (01.09.2015)
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Journal Article