Response to Braun et al.

per Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.
Publicat 2010

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

per Hayward, Bruce E., Moran, Veronica, Strain, Lisa, Bonthron, David T.
Publicat 1998

Structures of alternatively spliced isoforms of human ketohexokinase

per Trinh, Chi H., Asipu, Aruna, Bonthron, David T., Phillips, Simon E. V.
Publicat 2009

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

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

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

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

Sequence analysis and editing for bisulphite genomic sequencing projects

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

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

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

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

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

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

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

Cantú syndrome with coexisting familial pituitary adenoma

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

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

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

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

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

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

per Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Publicat a 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

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

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

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

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

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

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

per 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.
Publicat a 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

per 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.
Publicat a RNA (2017)

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

per 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
Publicat a J Med Genet (2016)

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

per 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
Publicat 2012