Response to Braun et al.

по Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.
Опубликовано 2010

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

по Hayward, Bruce E., Moran, Veronica, Strain, Lisa, Bonthron, David T.
Опубликовано 1998

Structures of alternatively spliced isoforms of human ketohexokinase

по Trinh, Chi H., Asipu, Aruna, Bonthron, David T., Phillips, Simon E. V.
Опубликовано 2009

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

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

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

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

Sequence analysis and editing for bisulphite genomic sequencing projects

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

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

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

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

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

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

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

Cantú syndrome with coexisting familial pituitary adenoma

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

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

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

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

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

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

по Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Опубликовано в: 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

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

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

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

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

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

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

по 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.
Опубликовано в: 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

по 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.
Опубликовано в: RNA (2017)

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

по 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
Опубликовано в: J Med Genet (2016)

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

по 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
Опубликовано 2012