Response to Braun et al.

le Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.
Foilsithe 2010

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

le Hayward, Bruce E., Moran, Veronica, Strain, Lisa, Bonthron, David T.
Foilsithe 1998

Structures of alternatively spliced isoforms of human ketohexokinase

le Trinh, Chi H., Asipu, Aruna, Bonthron, David T., Phillips, Simon E. V.
Foilsithe 2009

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

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

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

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

Sequence analysis and editing for bisulphite genomic sequencing projects

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

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

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

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

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

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

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

Cantú syndrome with coexisting familial pituitary adenoma

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

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

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

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

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

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

le Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Foilsithe in 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

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

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

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

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

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

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

le 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.
Foilsithe in 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

le 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.
Foilsithe in RNA (2017)

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

le 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
Foilsithe in J Med Genet (2016)

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

le 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
Foilsithe 2012