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List of works by David T. Bonthron

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

scientific article

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

scientific article published on 4 October 2015

A global disorder of imprinting in the human female germ line

scientific article

A human parthenogenetic chimaera

scientific article published in October 1995

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

scientific article

A proposal for a new classification of complications in craniosynostosis surgery

scientific article published on 31 March 2017

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

scientific article published in January 1998

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

scientific article

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

scientific article published on 28 September 2020

Atypical Takayasu arteritis: a family with five affected siblings

scientific article published on 01 August 2007

Autozygosity mapping with exome sequence data

scientific article

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

scientific article

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

scientific article published on 02 May 2018

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

scientific article published on September 14, 2010

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

scientific article published on 04 July 2019

Characterisation of the tumour suppressor gene ZAC in breast tissue

scientific article published in November 2006

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene ⬇️

scientific article published on 31 August 2017

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

scientific article (publication date: August 2000)

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

article

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

scientific article published on 18 March 2010

Complex patterns of intragenic polymorphism at the PDGFA locus

scientific article published in November 1999

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

scientific article

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

scientific article

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

scientific article published on 5 January 2016

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

scientific article published on 01 April 2003

Detection of somatic mutations in tumors using unaligned clonal sequencing data

scientific article

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

scientific article published on 16 July 2014

Does patient ethnicity affect site of craniosynostosis?

scientific article published on 17 October 2014

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

scientific article

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

scientific article published on 01 April 2003

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

scientific article

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

scientific article published on January 2013

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

scientific article published on 4 January 2016

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

scientific article

Expression, purification and preliminary crystallographic studies of human ketohexokinase

scientific article

Extensive gene conversion at the PMS2 DNA mismatch repair locus

scientific article published on May 2007

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

scientific article

GNAS1 mutational analysis in pseudohypoparathyroidism

scientific article published on 01 October 1998

GNAS1Mutations and Progressive Osseous Heteroplasia

scientific article published on 01 May 2002

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

scientific article published on 30 October 2010

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

scientific article published on 9 April 2015

Genetic and epigenetic analysis of recurrent hydatidiform mole

scientific article published in May 2009

Genetic diagnosis of familial breast cancer using clonal sequencing

scientific article

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

scientific article published in February 1994

Genetics meets pathology - an increasingly important relationship ⬇️

scientific article published on 14 November 2016

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

scientific article published on 01 March 1998

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

scientific article

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

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

scientific article published on 8 October 2013

Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.

scientific article published on August 1995

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

scientific article published on November 15, 1992

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

scholarly article

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

scientific article published in June 2009

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

scientific article

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

scientific article published on 28 November 2011

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

scientific article published on 19 May 2011

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

scientific article

Inferring relative proportions of DNA variants from sequencing electropherograms

scientific article published on 9 October 2009

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

scientific article

L-asparaginase II of Escherichia coli K-12: cloning, mapping and sequencing of the ansB gene

scientific article

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline ⬇️

scientific article

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

scientific article published in May 2010

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

scientific article

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

scientific article

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

scientific article

Molecular genetics of the human glucokinase regulator-fructokinase (GCKR-KHK) region of chromosome 2p23.

scientific article

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

scientific article

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

scientific article

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 July 2007

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

scientific article

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

scientific article published on 9 May 2003

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

scientific article

Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 August 2015

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

scientific article

Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome

scientific article

PMS2 mutations in HNPCC

scientific article published on 01 December 2004

PMS2 mutations in childhood cancer

scientific article published in December 2005

PMS2 mutations in childhood cancer

scientific article published in March 2006

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

scientific article

Parental origin of transcription from the human GNAS1 gene.

scientific article

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

scientific article

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

scientific article published on June 1, 1992

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

scientific article published on July 1994

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

scientific article published on 01 August 1993

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

scientific article

Population screening for fragile-X syndrome

scientific article published in The Lancet

Prenatal diagnosis of X-linked hydrocephalus

scientific article published on 01 May 1994

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

scientific article published in June 1994

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment ⬇️

scientific article published in November 2015

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

scientific article

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

scientific article published in Science

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

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

scientific article

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype ⬇️

scientific article

Response to Braun et al

article

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

scientific article published on April 2014

SAMHD1-dependent retroviral control and escape in mice.

scientific article published on 19 July 2013

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

scientific article

Sequence analysis and editing for bisulphite genomic sequencing projects ⬇️

scientific article published on 21 May 2007

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

scientific article published in December 2009

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

scientific article

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome

scientific article

Smal andHhal polymorphisms in the 5′ region of the human von Willebrand factor gene (F8VWF) ⬇️

scientific article published on July 25, 1991

Structure and alternative splicing of the ketohexokinase gene ⬇️

scientific article published on October 1, 1998

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

scientific article

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

scientific article published in May 1991

Structures of alternatively spliced isoforms of human ketohexokinase

scientific article

The ASP1 gene of Saccharomyces cerevisiae, encoding the intracellular isozyme of L-asparaginase

scientific article published in June 1994

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

scientific article (publication date: 12 February 2000)

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

article

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

scientific article

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

scientific article published in January 1988

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

scientific article

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

scientific article published on 6 March 2007

Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome

scientific article published on 01 January 1984

Why a "benign" mutation kills enzyme activity. Structure-based analysis of the A176V mutant of Saccharomyces cerevisiae L-asparaginase I.

scientific article published on January 1997

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

scientific article published in September 2003

XX/XY chimaerism after IVF

scientific article published on 01 July 2004

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.

scientific article

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

scientific article published on 19 July 2017

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