Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis

por Watson, Christopher M., Holliday, Deborah L., Crinnion, Laura A., Bonthron, David T.
Publicado 2022

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease

por Watson, Christopher M., Nadat, Fatima, Ahmed, Sammiya, Crinnion, Laura A., O’Riordan, Sean, Carter, Clive, Savic, Sinisa
Publicado 2022

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

por Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A., Markham, Alexander F., Watson, Christopher M., Bonthron, David T., Carr, Ian M.
Publicado 2015

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization

por Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Publicado 2015

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

por Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Publicado 2016

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

por Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.
Publicado 2019

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

por Watson, Christopher M., Crinnion, Laura A., Berry, Ian R., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S., Dobbie, Angus, Carr, Ian M., Bonthron, David T.
Publicado 2016

m6aViewer: software for the detection, analysis, and visualization of N(6)-methyladenosine peaks from m(6)A-seq/ME-RIP sequencing data

por Antanaviciute, Agne, Baquero-Perez, Belinda, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Whitehouse, Adrian, Carr, Ian M.
Publicado 2017

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

por 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
Publicado 2016

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

por 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
Publicado 2023

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12

por 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
Publicado 2023

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

por 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.
Publicado 2023

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

por 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.
Publicado 2015

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

por Poulter, James A., Smith, Claire E. L., Murrillo, Gina, Silva, Sandra, Feather, Sally, Howell, Marianella, Crinnion, Laura, Bonthron, David T., Carr, Ian M., Watson, Christopher M., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2015

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

por 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
Publicado 2014

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

por Diggle, Christine P., Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H., White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E., Carr, Ian M., Watson, Christopher M., Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P. Louise, Markham, Alexander F., Dear, T. Neil, Bonthron, David T., Peckham, Michelle, Morrison, Ewan E., Sheridan, Eamonn
Publicado 2017