D. Bonthron

发表

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

Julia Gala de Pablo, Fern J Armistead, S. Peyman, 2018, Journal of Raman spectroscopy : JRS.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Genetic diagnosis of familial breast cancer using clonal sequencing

Eamonn Sheridan, Graham R Taylor, D. Bonthron, 2010, Human mutation.

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Laura A. Crinnion, D. Bonthron, A. Markham, 2015, Human mutation.

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

C F Dewey, D. Bonthron, T. Collins, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Expression, purification and catalytic activity of Lupinus luteus asparagine beta-amidohydrolase and its Escherichia coli homolog.

M. Jaskólski, D. Bonthron, J. Otlewski, 2004, European journal of biochemistry.

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

D. Bonthron, A. Markham, D. Ginsburg, 1985, The Journal of clinical investigation.

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

S. Latt, D. Bonthron, S. Orkin, 1985, Science.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Colin A. Johnson, Martin W. Breuss, P. Gaffney, 2020, Neuron.

Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy.

D. Bonthron, M. Lanaspa, C. Rivard, 2014, Journal of the American Society of Nephrology : JASN.

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

D. Bonthron, Z. Molnár, Y. Crow, 2009, American journal of human genetics.

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

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, BMC Medical Genetics.

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

D. Bonthron, A. Markham, M. McKibbin, 2012, PloS one.

Novel cis-acting elements in the human platelet-derived growth factor B-chain core promoter that mediate gene expression in cultured vascular endothelial cells.

D. Bonthron, J. Fries, T. Collins, 1994, The Journal of biological chemistry.

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

D. Bonthron, S. Orkin, D. Ginsburg, 1986, Nucleic acids research.

Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

D. Bonthron, J. McManaman, M. Lanaspa, 2013, Nature Communications.

Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice

D. Bonthron, M. Lanaspa, C. Rivard, 2012, Proceedings of the National Academy of Sciences.

Structure of the murine c-sis proto-oncogene (Sis, PDGFB) encoding the B chain of platelet-derived growth factor.

D. Bonthron, T. Collins, P. Sultan, 1991, Genomics.

High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase

D. Bonthron, M. Lanaspa, C. Rivard, 2013, Hepatology.

Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly

D. Bonthron, M. Korbonits, A. Grossman, 2001 .

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

D. Bonthron, B. Hayward, J. O'Reilly, 2003, Diabetes.

Structure of pre-pro-von Willebrand factor and its expression in heterologous cells

D. Bonthron, S. Orkin, J. Loscalzo, 1986, Nature.

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

D. Bonthron, I. Carr, C. Gardiner, 2020, Human mutation.

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

Laura A. Crinnion, D. Bonthron, I. Carr, 2019, Laboratory Investigation.

Response to Braun et al.

D. Bonthron, E. Sheridan, M. R. Abdollahi, 2010 .

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

D. Bonthron, S. Ellard, G. Taylor, 2010, Journal of Medical Genetics.

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

D. Bonthron, T. Collins, M. Gimbrone, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

D. Bonthron, N. Rahman, A. Markham, 2013, Human mutation.

DominantMapper: Rule‐based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Colin A. Johnson, D. Bonthron, A. Markham, 2011, Human mutation.

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

D. Bonthron, A. Markham, I. Carr, 2009, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT 1 ( DNA-binding protein / zinc finger / repressor / kidney development )

D. Bonthron, V. Sukhatme, T. Collins, 2004 .

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

D. Bonthron, B. Hayward, L. Strain, 1998, Proceedings of the National Academy of Sciences of the United States of America.

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

Laura A. Crinnion, D. Bonthron, I. Carr, 2014, American journal of medical genetics. Part A.

Platelet-derived growth factor A chain: confirmation of localization of PDGFA to chromosome 7p22 and description of an unusual minisatellite.

D. Bonthron, K. Grzeschik, F. Speleman, 1992, Genomics.

Platelet-derived growth factor A-chain gene transcription is mediated by positive and negative regulatory regions in the promoter.

D. Bonthron, D. Kaetzel, R. Fenstermaker, 1994, The Biochemical journal.

Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1.

D. Bonthron, S. Madden, V. Sukhatme, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II.

D. Bonthron, S. Orkin, D. Wagner, 1986, Science.

Expression, purification and preliminary crystallographic studies of human ketohexokinase.

M. Jaskólski, D. Bonthron, D. Borek, 2001, Acta crystallographica. Section D, Biological crystallography.

Cantú syndrome with coexisting familial pituitary adenoma

D. Bonthron, M. Korbonits, S. Hunter, 2018, Endocrine.

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Laura A. Crinnion, D. Bonthron, G. Taylor, 2013, Human mutation.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization.

D. Bonthron, M. Hamilton, L. Strain, 1998, The New England journal of medicine.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

D. Barnes, D. Bonthron, H. Brunner, 2006, Nature Genetics.

Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

Laura G. Sánchez-Lozada, David T. Bonthron, Shoichi Maruyama, 2013, Nature Communications.

GNAS1 mutations and progressive osseous heteroplasia.

D. Bonthron, D. Barr, S. F. Ahmed, 2002, The New England journal of medicine.

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

D. Bonthron, C. Fishwick, A. Latos-Bieleńska, 2008, Nature Genetics.

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

D. Bonthron, A. Wright, L. Strain, 1997, Journal of medical genetics.

retardation syndrome mapping to Xp 22 . Fried syndrome is a distinct X linked mental

D. Bonthron, A. Wright, L. Strain, 2022 .

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

D. Bonthron, I. Jackson, A. von Kriegsheim, 2014, PLoS genetics.

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

D. Bonthron, H. Firth, C. Hayward, 2003, Human molecular genetics.

Both isoforms of ketohexokinase are dispensable for normal growth and development.

D. Bonthron, A. Markham, I. Carr, 2010, Physiological genomics.

Sequence analysis and editing for bisulphite genomic sequencing projects

Ian M. Carr, Alexander F. Markham, David T. Bonthron, 2007, Nucleic acids research.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

PDGF B-chain in neurons of the central nervous system, posterior pituitary, and in a transgenic model

D. Bonthron, A. Gown, M. Frosch, 1991, Cell.

Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians

D. Bonthron, P. Boutin, E. Schaftingen, 2003, Diabetologia.

Autozygosity Mapping with Exome Sequence Data

D. Bonthron, F. Alkuraya, S. Bhaskar, 2013, Human mutation.

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

D. Bonthron, G. Taylor, E. Sheridan, 2009, Human mutation.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Laura A. Crinnion, D. Bonthron, H. Lindsay, 2020, Laboratory Investigation.

Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance

D. Bonthron, D. Macgregor, D. Barr, 1993, Clinical genetics.

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

Ian M. Carr, Alexander F. Markham, David T. Bonthron, 2010, Nucleic Acids Res..

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

A global disorder of imprinting in the human female germ line

D. Bonthron, E. Sheridan, B. Hayward, 2002, Nature.

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.

D. Bonthron, Y. Hayashizaki, Y. Okazaki, 2000, Human molecular genetics.

A human parthenogenetic chimaera

D. Bonthron, L. Strain, J. Warner, 1995, Nature Genetics.

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

D. Bonthron, A. Markham, R. Hopkin, 2010, Rheumatology.

GNAS1 mutational analysis in pseudohypoparathyroidism

D. Bonthron, R. Thakker, C. Kelnar, 1998, Clinical endocrinology.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Laura A. Crinnion, D. Bonthron, Z. Molnár, 2017, PloS one.

Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis.

D. Bonthron, K. Maclennan, K. Horgan, 2003, Cancer genetics and cytogenetics.

Does patient ethnicity affect site of craniosynostosis?

D. Bonthron, P. Chumas, I. Anderson, 2014, Journal of neurosurgery. Pediatrics.

A proposal for a new classification of complications in craniosynostosis surgery.

D. Bonthron, M. Kapetanstrataki, P. Chumas, 2017, Journal of neurosurgery. Pediatrics.

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data

Ian M. Carr, Alexander F. Markham, Adrian Whitehouse, 2017, RNA.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Colin A. Johnson, D. Bonthron, C. Stumpel, 2013, American journal of human genetics.

Inferring relative proportions of DNA variants from sequencing electropherograms

Ian M. Carr, Alexander F. Markham, J. I. Robinson, 2009, Bioinform..

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Extensive gene conversion at the PMS2 DNA mismatch repair locus

D. Bonthron, G. Taylor, E. Sheridan, 2007, Human mutation.

Regulation of PDGF Expression in Vascular Cells

D. Bonthron, J. Fries, T. Collins, 1991 .

Detection of somatic mutations in tumors using unaligned clonal sequencing data

Laura A. Crinnion, D. Bonthron, P. Quirke, 2014, Laboratory Investigation.

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, PloS one.

Explorer HEATR 2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Amaya Garcia Munoz, D. Bonthron, I. Jackson, 2017 .

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

D. Bonthron, E. Sheridan, B. Hayward, 2004, American journal of human genetics.

Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene

D. Bonthron, F. Speleman, J. Vandesompele, 2000, Human Genetics.

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

D. Bonthron, R. Parmar, E. Valleley, 2017, PloS one.

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

D. Bonthron, E. Valleley, S. F. Cordery, 2007, Human molecular genetics.

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

D. Bonthron, C. Gosden, D. Brock, 1994, American journal of human genetics.

The human von Willebrand factor gene. Structure of the 5' region.

D. Bonthron, S. Orkin, Stuart H. Orkin, 1988, European journal of biochemistry.

Platelet-derived growth factor A chain: gene structure, chromosomal location, and basis for alternative mRNA splicing.

D. Bonthron, S. Orkin, C. Morton, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Laura A. Crinnion, D. Bonthron, Lijia Huang, 2018, bioRxiv.

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

Ian M. Carr, Alexander F. Markham, Agne Antanaviciute, 2015, Bioinform..

Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

D. Bonthron, J. Neilson, M. Porteous, 1994, Prenatal diagnosis.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

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

Laura A. Crinnion, D. Bonthron, M. Newbould, 2016, Journal of Medical Genetics.

SmaI and HhaI polymorphisms in the 5' region of the human von Willebrand factor gene (F8VWF).

D. Bonthron, D. Brock, L. Strain, 1991, Nucleic acids research.

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Laura A. Crinnion, D. Bonthron, J. Adlard, 2021, Cancer genetics.

IBDfinder and SNPsetter: Tools for pedigree‐independent identification of autozygous regions in individuals with recessive inherited disease

D. Bonthron, A. Markham, I. Carr, 2009, Human mutation.

Alternative RNA splicing affects function of encoded platelet-derived growth factor A chain

D. Bonthron, S. Orkin, T. Collins, 1987, Nature.

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Laura A. Crinnion, D. Bonthron, A. Markham, 2017, The Journal of molecular diagnostics : JMD.

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

D. Bonthron, S. Kenwrick, L. Strain, 1996, Journal of medical genetics.

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment

D. Bonthron, A. Markham, B. Prakken, 2015, The Journal of Rheumatology.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

Atypical Takayasu arteritis: a family with five affected siblings.

D. Bonthron, P. Frossard, J. Sajid, 2007, Medical science monitor : international medical journal of experimental and clinical research.

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

D. Bonthron, K. Maclennan, I. Carr, 2010, Genes, chromosomes & cancer.

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Laura A. Crinnion, D. Bonthron, E. Sheridan, 2022, Journal of Medical Genetics.

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

Graham R Taylor, D. Bonthron, A. Markham, 2006, Human mutation.

Structures of alternatively spliced isoforms of human ketohexokinase

David T. Bonthron, D. Bonthron, S. Phillips, 2009, Acta crystallographica. Section D, Biological crystallography.

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

Colin A. Johnson, D. Bonthron, A. Markham, 2009, Human mutation.

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Laura A. Crinnion, D. Bonthron, M. Care, 2023, Journal of clinical immunology.

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Identification of autosomal recessive disease loci using out‐bred nuclear families

Colin A. Johnson, D. Bonthron, I. Carr, 2012, Human mutation.

Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13

D. Bonthron, B. Hayward, L. Strain, 2000, Human Genetics.

An imprinted antisense transcript at the human GNAS1 locus.

D. Bonthron, B. Hayward, D. Bonthron, 2000, Human molecular genetics.

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

D. Bonthron, Y. Hayashizaki, B. Hayward, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Parental origin of transcription from the human GNAS1 gene.

D. Bonthron, C. Gosden, D. Bonthron, 1994, Journal of medical genetics.

A locus for isolated cleft palate, located on human chromosome 2q32.

A. Green, D. Bonthron, A. Markham, 1999, American journal of human genetics.

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

Laura A. Crinnion, D. Bonthron, C. Watson, 2019, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

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

Catherine Daly, Ian M. Carr, Alexander F. Markham, 2015, Bioinform..

Structure and alternative splicing of the ketohexokinase gene.

D. Bonthron, B. Hayward, D. Bonthron, 1998, European journal of biochemistry.

The genes encoding glucokinase regulatory protein and ketohexokinase co-localize to mouse Chromosome 5

D. Bonthron, B. Hayward, P. Wightman, 1997, Mammalian Genome.

Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of Chromosome 2p23

D. Bonthron, A. Markham, J. Leek, 1996, Mammalian Genome.

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).

D. Bonthron, N. Brady, D. Bonthron, 1994, Human molecular genetics.

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

Laura A. Crinnion, D. Bonthron, C. Inglehearn, 2015, Molecular genetics & genomic medicine.

PMS2 mutations in childhood cancer.

D. Bonthron, B. Hayward, E. Maher, 2006, Journal of the National Cancer Institute.

SAMHD1‐dependent retroviral control and escape in mice

D. Bonthron, P. Bieniasz, J. Rehwinkel, 2013, The EMBO journal.

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

D. Bonthron, S. Orkin, R. Handin, 1986, Nucleic acids research.

A proposal for a new classification of complications in craniosynostosis surgery.

D. Bonthron, M. Kapetanstrataki, P. Chumas, 2017, Journal of neurosurgery. Pediatrics.

Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus.

D. Bonthron, A. Hoffman, T. Vu, 2000, Genomics.

DominantMapper: Rule‐based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Colin A. Johnson, D. Bonthron, A. Markham, 2011, Human mutation.

Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis

Laura A. Crinnion, D. Bonthron, C. Watson, 2022, Prenatal diagnosis.

Complex patterns of intragenic polymorphism at the PDGFA locus

D. Bonthron, D. Bonthron, R. Campbell, 1999, Human Genetics.

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

D. Bonthron, G. Taylor, A. Markham, 2011, Genomics.

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

D. Bonthron, M. Porteous, J. Chelly, 2007, Journal of Medical Genetics.