R. Elles

发表

Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.

S. Patton, A. Wallace, R. Elles, 2006, Clinical chemistry.

Germline mutation of ARF in a melanoma kindred.

A. Howell, A. Read, R. Jordan, 2002, Human molecular genetics.

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

K. Davies, R. Williamson, B. Young, 1981, Nature.

Integrated regional genetic services: current and future provision.

R. Elles, D. Donnai, R. Elles, 2001, BMJ : British Medical Journal.

Towards quality assurance and harmonization of genetic testing services in the European Union

E. Dequeker, J. Cassiman, R. Elles, 2004, Nature Biotechnology.

Molecular diagnosis of genetic diseases

R. Mountford, R. Elles, 1996 .

An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.

A. Howell, D. Evans, J. Varley, 1998, Journal of medical genetics.

Expression of HLA class I α chain determinants by human X mouse hybrid T cells is correlated with HLA-β2m but not with H-2

G. M. Taylor, R. Elles, Rodney Harris, 2008 .

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Novel and recurrent mutations in the C‐terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

Jews . mutations in a population of Ashkenazi An evaluation of common breast cancer gene

A. Howell, J. Varley, S. Cochrane, 2022 .

Y chromosome detection by Real Time PCR and pyrophosphorolysis‐activated polymerisation using free fetal DNA isolated from maternal plasma

R. Vossen, J. D. den Dunnen, G. Daniels, 2007, Prenatal Diagnosis.

Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy.

M. Pembrey, K. Davies, R. Winter, 1984, Archives of disease in childhood.

Absence of maternal contamination of chorionic villi used for fetal-gene analysis.

D. Horwell, D. Coleman, R. Elles, 1983, The New England journal of medicine.

CLINIC EXPERIENCE OF PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY USE OF LINKED DNA PROBES

A. Read, M. Schwarz, A. Ivinson, 1987, The Lancet.

Testing for cystic fibrosis using allelic association.

A. Read, M. Schwarz, A. Ivinson, 1989, Journal of medical genetics.

Molecular genetics in the National Health Service in Britain.

D. Craufurd, T. Strachan, A. Read, 1989, Journal of medical genetics.

Molecular genetics intheNational HealthService inBritain

D. Craufurd, T. Strachan, A. Read, 1989 .

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.

A. Read, R. Elles, R. Harris, 1994, Journal of medical genetics.

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

S. Seneca, S. Patton, J. Sequeiros, 2008, European Journal of Human Genetics.

An overview of clinical molecular genetics.

R Elles, R. Elles, 1996, Methods in molecular medicine.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Is the locus for Costello syndrome on 11p?

N. Philip, B. Kerr, R. Elles, 2003, Journal of medical genetics.

A register based system for gene tracking in Duchenne muscular dystrophy.

A. Read, R. Mountford, R. Elles, 1986, Journal of medical genetics.

A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: the TARGET study.

Katherine Payne, David W Ray, Simon C Ramsden, 2011, Pharmacogenomics.

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

D. Evans, A. Wallace, R. Elles, 2004, Genetic testing.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

R. Fossdal, E. Coto, S. Somlo, 1997, American journal of human genetics.

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

M. Losekoot, R. Elles, B. Bakker, 1999, European Journal of Human Genetics.

Prenatal diagnosis in a family with X‐linked hydrocephalus

S. Mansour, R. Elles, D. Gokhale, 2005, Prenatal diagnosis.

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.

Barbara Zehnbauer, Rob Elles, Mario Pazzagli, 2013, Archives of pathology & laboratory medicine.

Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

L. Chitty, L. Jenkins, R. Elles, 2012, Expert opinion on biological therapy.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

2157delG: a frequent mutation in BRCA2 missed by PTT

D. Evans, F. Lalloo, R. Elles, 2000, Journal of medical genetics.

Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004 .

External Quality Assessment in Molecular Genetic Testing

Rob Elles, Outi Kämäräinen, R. Elles, 2010 .

Meta-PCR: a novel method for creating chimeric DNA molecules and increasing the productivity of mutation scanning techniques.

A. Wallace, R. Elles, C. L. Wu, 1999, Genetic testing.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

W. Newman, M. Wright, S. Ramsden, 2005, European Journal of Human Genetics.

Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?

A. Read, R. Elles, R. Harris, 1990, Journal of medical genetics.

polycystic kidney disease ? second locus for adult heterogeneity : is there a Recombination or and

A. Read, R. Elles, R. Harris, 2022 .

Linkage disequilibrium between D16S94 and the locus for adult polycystic kidney disease (PKD1)

R. Elles, 1992, Journal of medical genetics.

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.

W. Grody, B. Zehnbauer, S. Barker, 2013, Archives of pathology & laboratory medicine.