Response to Braun et al.

מאת Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.
יצא לאור 2010

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

מאת Hayward, Bruce E., Moran, Veronica, Strain, Lisa, Bonthron, David T.
יצא לאור 1998

Structures of alternatively spliced isoforms of human ketohexokinase

מאת Trinh, Chi H., Asipu, Aruna, Bonthron, David T., Phillips, Simon E. V.
יצא לאור 2009

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

מאת De Vos, Michel, Hayward, Bruce E., Picton, Susan, Sheridan, Eamonn, Bonthron, David T.
יצא לאור 2004

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

מאת Hayward, Bruce E., Kamiya, Mamoru, Strain, Lisa, Moran, Veronica, Campbell, Roderick, Hayashizaki, Yoshihide, Bonthron, David T.
יצא לאור 1998

Sequence analysis and editing for bisulphite genomic sequencing projects

מאת Carr, Ian M., Valleley, Elizabeth M. A., Cordery, Sarah F., Markham, Alexander F., Bonthron, David T.
יצא לאור 2007

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

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

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

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

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

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

Cantú syndrome with coexisting familial pituitary adenoma

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

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

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

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

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

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

מאת Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
הוצא לאור ב 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

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

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

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

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

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

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

מאת 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.
הוצא לאור ב 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

מאת 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.
הוצא לאור ב RNA (2017)

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

מאת 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
הוצא לאור ב J Med Genet (2016)

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

מאת 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
יצא לאור 2012