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List of works by David Barton

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

scientific article published in The Lancet

A genome-wide scan for genes involved in primary vesicoureteric reflux.

scientific article published on 27 July 2007

A molecular, clinical, and immunohistochemical study of vestibular schwannoma

scientific article published on 01 April 1997

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

scientific article published on 07 July 2013

Activation of human? 1,-antitrypsin genes in rat hepatoma � human fibroblast hybrid cell lines is correlated with demethylation

article

All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection

scientific article

Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.

scientific article

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

scientific article published in October 1993

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux

scientific article published in September 2002

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

B37 repeats are normal in most schizophrenic patients

scientific article published on 01 June 1994

Benchmarks for cystic fibrosis carrier screening: a European consensus document

scientific article published on 02 April 2010

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

scientific article

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

scientific article

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

scientific article published on September 2012

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

article

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

scientific article (publication date: November 1998)

Cross-border genetic testing.

scientific article published on 19 October 2010

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

scientific article published on 01 January 1997

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

scientific article

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.

scientific article published in April 2004

Developing a sustainable process to provide quality control materials for genetic testing

scientific article

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

scientific article published on 01 April 1994

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

scientific article

Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

scholarly article published in European Journal of Human Genetics

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes ⬇️

scientific article published on May 18, 2011

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

scholarly article by Sarah Berwouts et al published August 2008 in Human Mutation

Familial vesicoureteral reflux: influence of sex on prevalence and expression

scientific article published in October 2006

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

scientific article published on March 1999

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.

scientific article published in July 2005

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

article

Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.

scientific article

Genetic services in Ireland

scientific article published on January 1, 1997

Genetics of vesicoureteral reflux.

scientific article

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus

scientific article published on 01 April 1993

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

scientific article published in February 1995

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

scientific article published on 27 March 2013

Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21.

scientific article

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene

scientific article

Incidence of Fragile X syndrome in Ireland.

scientific article published on 3 February 2017

Instability of normal (CTG)n alleles in the DM kinase gene.

scientific article

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

article

Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation

scientific article published on 10 February 2020

Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA

scientific article published on 01 January 1983

Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15

scientific journal article

Isolation, Chromosomal Mapping, and Expression of the Mouse Tyrosinase Gene

article

Issues in Huntington's disease testing

scientific article published in February 1994

Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity.

scientific article published on October 1989

Linkage Analysis of Candidate Genes in Families With Vesicoureteral Reflux

article

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey

scientific article published on 12 April 2019

Mapping of Von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

article

Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin

scientific article

Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer

article

Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma.

scientific article

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

scientific article published on May 1996

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

scientific article

Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme

scientific article published on 10 April 2011

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

scientific article published in August 1994

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

article

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations

scientific article published on 01 November 1994

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years

scientific article published on 01 June 2020

Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients

scientific article

Predictive testing for BRCA1 and 2 mutations: a male contribution

scientific article published in April 2003

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

scientific article

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers ⬇️

scientific article published on December 1, 1992

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

scientific article

Quality control in molecular genetic testing

article

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

scientific article published on 14 August 2013

Reply to Sajantila and Budowle

scientific article published on 14 January 2015

Report of an international survey of molecular genetic testing laboratories

scientific article published in January 2007

Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines

scientific article

Site of (CCG) polymorphism in the HD gene

scientific article published in November 1993

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

article

Targeted versus whole-genome array comparative genome hybridization: The Atlantic divide

scientific article published on April 2007

The Wilms tumor suppressor gene wt1 is required for development of the spleen

scientific article published in July 1999

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

scientific article published on 28 March 2012

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding

scientific article

The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22?q24) by somatic cell hybrid analysis and in situ hybridization

article

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland

scientific article published in May 2009

The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice

scientific article

The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

article

Two new cases of FMR1 deletion associated with mental impairment.

scientific article published on January 1995

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

scientific article published on 01 May 2000

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux

scientific article published in April 2005

When good CF tests go bad.

scientific article published on 3 December 2008

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