David T Bonthron

David T Bonthron

UNVERIFIED PROFILE

Are you David T Bonthron?   Register this Author

Register author
David T Bonthron

David T Bonthron

Publications by authors named "David T Bonthron"

Are you David T Bonthron?   Register this Author

77Publications

2270Reads

38Profile Views

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Hum Mutat 2019 Oct 30. Epub 2019 Oct 30.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23940DOI Listing
October 2019

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

Lab Invest 2019 Jul 4. Epub 2019 Jul 4.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41374-019-0283-0DOI Listing
July 2019

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.

J Obstet Gynaecol 2019 Apr 3;39(3):328-334. Epub 2019 Feb 3.

a Department of Fetal Medicine , Leeds General Infirmary , Leeds , United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01443615.2018.1522529DOI Listing
April 2019

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

J Clin Immunol 2019 Apr 16;39(3):270-273. Epub 2019 Apr 16.

Department of Clinical Immunology and Allergy, St. James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-00625-4
Publisher Site
http://dx.doi.org/10.1007/s10875-019-00625-4DOI Listing
April 2019

Cantú syndrome with coexisting familial pituitary adenoma.

Endocrine 2018 03 11;59(3):677-684. Epub 2018 Jan 11.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12020-017-1497-9
Publisher Site
http://dx.doi.org/10.1007/s12020-017-1497-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847123PMC
March 2018

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Mol Diagn Ther 2017 12;21(6):685-692

Yorkshire Regional Genetics Service, St. James's University Hospital, 6.2 Clinical Sciences Building, Leeds, LS9 7TF, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40291-017-0304-xDOI Listing
December 2017

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

J Mol Diagn 2017 11 1;19(6):933-940. Epub 2017 Sep 1.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, United Kingdom; MRC Medical Bioinformatics Centre, Leeds Institute for Data Analytics, St. James's University Hospital, Leeds, United Kingdom; MRC Single Cell Functional Genomics Centre, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15251578173031
Publisher Site
http://dx.doi.org/10.1016/j.jmoldx.2017.08.002DOI Listing
November 2017

m6aViewer: software for the detection, analysis, and visualization of -methyladenosine peaks from mA-seq/ME-RIP sequencing data.

RNA 2017 10 19;23(10):1493-1501. Epub 2017 Jul 19.

Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1261/rna.058206.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602108PMC
October 2017

Genetics meets pathology - an increasingly important relationship.

J Pathol 2017 Jan;241(2):119-122

Departments of Human Genetics, Oncology and Medicine, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/path.4849DOI Listing
January 2017

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Mol Genet Genomic Med 2015 Nov 4;3(6):543-9. Epub 2015 Oct 4.

Section of Ophthalmology and NeuroscienceUniversity of LeedsLeedsUnited Kingdom; Department of Oral MedicineSchool of DentistryUniversity of LeedsLeedsUnited Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694127PMC
November 2015

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

Bioinformatics 2015 Aug 9;31(16):2728-35. Epub 2015 Apr 9.

Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds, St James's University Hospital and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/btv196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528628PMC
August 2015

Does patient ethnicity affect site of craniosynostosis?

J Neurosurg Pediatr 2014 Dec 17;14(6):682-7. Epub 2014 Oct 17.

Department of Neurosurgery, Leeds General Infirmary;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3171/2014.9.PEDS14123DOI Listing
December 2014

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Am J Med Genet A 2014 Oct 16;164A(10):2649-55. Epub 2014 Jul 16.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, United Kingdom; School of Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36679DOI Listing
October 2014

Detection of somatic mutations in tumors using unaligned clonal sequencing data.

Lab Invest 2014 Oct 28;94(10):1173-83. Epub 2014 Jul 28.

Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/labinvest.2014.96DOI Listing
October 2014

SAMHD1-dependent retroviral control and escape in mice.

EMBO J 2013 Sep 19;32(18):2454-62. Epub 2013 Jul 19.

1] Immunobiology Laboratory, Cancer Research UK, London Research Institute, London, UK [2] Medical Research Council Human Immunology Unit, Radcliffe Department of Medicine, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/emboj.2013.163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770946PMC
September 2013

Autozygosity mapping with exome sequence data.

Hum Mutat 2013 Jan 22;34(1):50-6. Epub 2012 Oct 22.

School of Medicine, University of Leeds, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22220DOI Listing
January 2013

Identification of autosomal recessive disease loci using out-bred nuclear families.

Hum Mutat 2012 Feb 28;33(2):338-42. Epub 2011 Nov 28.

School of Medicine, University of Leeds, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21645DOI Listing
February 2012

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Hum Mutat 2011 Dec 19;32(12):1359-66. Epub 2011 Sep 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21597DOI Listing
December 2011

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Genomics 2011 Oct 19;98(4):302-9. Epub 2011 May 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygeno.2011.05.004DOI Listing
October 2011

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

J Med Genet 2011 Feb 30;48(2):123-30. Epub 2010 Oct 30.

Division of Molecular & Translational Medicine, Leeds Institute for Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

View Article

Download full-text PDF

Source
http://www.tara.tcd.ie/bitstream/handle/2262/53909/PEER_stag
Web Search
http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.082081
Publisher Site
http://dx.doi.org/10.1136/jmg.2010.082081DOI Listing
February 2011

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

Nucleic Acids Res 2011 Jan 19;39(1):e5. Epub 2010 Oct 19.

Department of Biochemistry and Molecular Biology, University of Florida Shands Cancer Center Program in Cancer Genetics, Epigenetics and Tumor Virology, Gainesville, FL 32610-3633, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkq716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3017589PMC
January 2011

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford) 2010 Jun 18;49(6):1056-62. Epub 2010 Mar 18.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/keq048DOI Listing
June 2010

Loss of expression of ZAC/PLAGL1 in diffuse large B-cell lymphoma is independent of promoter hypermethylation.

Genes Chromosomes Cancer 2010 May;49(5):480-6

Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gcc.20758DOI Listing
May 2010

Genetic diagnosis of familial breast cancer using clonal sequencing.

Hum Mutat 2010 Apr;31(4):484-91

University of Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Beckett Street, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21216DOI Listing
April 2010

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Hum Mutat 2009 Dec;30(12):1642-9

Division of Molecular & Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21105DOI Listing
December 2009

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Am J Hum Genet 2009 Nov 5;85(5):737-44. Epub 2009 Nov 5.

Section of Genetics (Leeds Institute of Molecular Medicine [LIMM]), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2009.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775839PMC
November 2009

Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme.

J Histochem Cytochem 2009 Aug 13;57(8):763-74. Epub 2009 Apr 13.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Beckett Street, Leeds LS9 7TF, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1369/jhc.2009.953190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713076PMC
August 2009

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Hum Mutat 2009 Jun;30(6):960-7

Centre for Autozygosity Mapping and Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20974DOI Listing
June 2009

Structures of alternatively spliced isoforms of human ketohexokinase.

Acta Crystallogr D Biol Crystallogr 2009 Mar 20;65(Pt 3):201-11. Epub 2009 Feb 20.

Astbury Centre for Structural Molecular Biology, Institute of Molecular and Cellular Biology, University of Leeds, Leeds, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1107/S0907444908041115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2651755PMC
March 2009

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

Nat Genet 2008 Jun 25;40(6):789-93. Epub 2008 May 25.

Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.153DOI Listing
June 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Atypical Takayasu arteritis: a family with five affected siblings.

Med Sci Monit 2007 Aug;13(8):CS101-5

Department of Biological and Biomedical Sciences, Faculty of Health Sciences, Medical College, Faculty of Health Sciences, Aga Khan University, Karachi, Pakistan.

View Article

Download full-text PDF

Source
August 2007

Sequence analysis and editing for bisulphite genomic sequencing projects.

Nucleic Acids Res 2007 21;35(10):e79. Epub 2007 May 21.

Leeds Institute for Molecular Medicine, University of Leeds, Leeds, UK.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
Publisher Site
http://dx.doi.org/10.1093/nar/gkm330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904293PMC
June 2007

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hum Mutat 2007 May;28(5):424-30

Leeds Institute of Molecular Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20457DOI Listing
May 2007

Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.

Hum Mol Genet 2007 Apr 6;16(8):972-81. Epub 2007 Mar 6.

Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm041DOI Listing
April 2007

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Hum Mutat 2006 Oct;27(10):1041-6

Leeds Institute for Molecular Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20383DOI Listing
October 2006

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006

XX/XY chimaerism after IVF.

Authors:
David T Bonthron

Prenat Diagn 2004 Jul;24(7):578

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.893
Publisher Site
http://dx.doi.org/10.1002/pd.893DOI Listing
July 2004

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

Am J Hum Genet 2004 May 7;74(5):954-64. Epub 2004 Apr 7.

Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/420796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181988PMC
May 2004

Identification of SATB2 as the cleft palate gene on 2q32-q33.

Hum Mol Genet 2003 Oct 29;12(19):2491-501. Epub 2003 Jul 29.

Cell and Molecualr Genentics, MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddg248DOI Listing
October 2003

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.

Diabetes 2003 Sep;52(9):2426-32

Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/diabetes.52.9.2426DOI Listing
September 2003

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

Am J Med Genet A 2003 Apr;118A(3):241-6

Cytogenetics Laboratory, Pathology Department, Highland Acute Hospitals NHS Trust, Raigmore Hospital, Inverness, Scotland, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10204DOI Listing
April 2003

GNAS1 mutations and progressive osseous heteroplasia.

N Engl J Med 2002 May;346(21):1669-71

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJM200205233462115DOI Listing
May 2002

A global disorder of imprinting in the human female germ line.

Nature 2002 Apr;416(6880):539-42

University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/416539a
Publisher Site
http://dx.doi.org/10.1038/416539aDOI Listing
April 2002