Response to Braun et al.

Tekijä Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.
Julkaistu 2010

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

Tekijä Hayward, Bruce E., Moran, Veronica, Strain, Lisa, Bonthron, David T.
Julkaistu 1998

Structures of alternatively spliced isoforms of human ketohexokinase

Tekijä Trinh, Chi H., Asipu, Aruna, Bonthron, David T., Phillips, Simon E. V.
Julkaistu 2009

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

Tekijä De Vos, Michel, Hayward, Bruce E., Picton, Susan, Sheridan, Eamonn, Bonthron, David T.
Julkaistu 2004

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins

Tekijä Hayward, Bruce E., Kamiya, Mamoru, Strain, Lisa, Moran, Veronica, Campbell, Roderick, Hayashizaki, Yoshihide, Bonthron, David T.
Julkaistu 1998

Sequence analysis and editing for bisulphite genomic sequencing projects

Tekijä Carr, Ian M., Valleley, Elizabeth M. A., Cordery, Sarah F., Markham, Alexander F., Bonthron, David T.
Julkaistu 2007

Imprinting of the G(s)α gene GNAS1 in the pathogenesis of acromegaly

Tekijä Hayward, Bruce E., Barlier, Anne, Korbonits, Márta, Grossman, Ashley B., Jacquet, Philippe, Enjalbert, Alain, Bonthron, David T.
Julkaistu 2001

A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes

Tekijä Smith, Claire E. L., Alexandraki, Alexia, Cordery, Sarah F., Parmar, Rekha, Bonthron, David T., Valleley, Elizabeth M. A.
Julkaisussa PLoS One (2017)

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

Tekijä Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A., Markham, Alexander F., Watson, Christopher M., Bonthron, David T., Carr, Ian M.
Julkaisussa Bioinformatics (2015)

Cantú syndrome with coexisting familial pituitary adenoma

Tekijä Marques, Pedro, Spencer, Rupert, Morrison, Patrick J., Carr, Ian M., Dang, Mary N., Bonthron, David T., Hunter, Steven, Korbonits, Márta
Julkaisussa Endocrine (2018)

Biochemical fingerprint of colorectal cancer cell lines using label‐free live single‐cell Raman spectroscopy

Tekijä Gala de Pablo, Julia, Armistead, Fern J., Peyman, Sally A., Bonthron, David, Lones, Michael, Smith, Stephen, Evans, Stephen D.
Julkaisussa J Raman Spectrosc (2018)

MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects

Tekijä Pardo, Carolina E., Carr, Ian M., Hoffman, Christopher J., Darst, Russell P., Markham, Alexander F., Bonthron, David T., Kladde, Michael P.
Julkaistu 2011

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

Tekijä Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Julkaisussa Bioinformatics (2015)

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

Tekijä Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Julkaisussa PLoS One (2016)

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

Tekijä Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.
Julkaisussa Lab Invest (2019)

Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme

Tekijä Diggle, Christine P., Shires, Michael, Leitch, Derek, Brooke, David, Carr, Ian M., Markham, Alex F., Hayward, Bruce E., Asipu, Aruna, Bonthron, David T.
Julkaistu 2009

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

Tekijä 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.
Julkaisussa BMC Med Genet (2016)

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

Tekijä 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.
Julkaisussa RNA (2017)

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

Tekijä 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
Julkaisussa J Med Genet (2016)

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

Tekijä Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Julkaistu 2012