Publications by authors named "Rob Elles"

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Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.
Lisa V Kalman, Ira M Lubin, Shannon Barker, Desiree du Sart, Rob Elles

Arch Pathol Lab Med· July 2013

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Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom.
Melissa Hill, Celine Lewis, Lucy Jenkins, Stephanie Allen, Rob G Elles

Expert Opin Biol Ther· June 2012

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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.
Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Rob Elles

Hum Mutat· January 2012

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.
Jennifer Boyle, Malcolm Hawkins, David E Barton, Karen Meaney, Miriam Guitart, Rob Elles

Eur J Hum Genet· August 2011

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
Malcolm Hawkins, Jennifer Boyle, Kathleen E Wright, Rob Elles, Simon C Ramsden

Eur J Hum Genet· January 2011

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Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.
Sara Seneca, Michael A Morris, Simon Patton, Rob Elles, Jorge Sequeiros

Eur J Hum Genet· August 2008

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Molecular genetic testing in the United States: comparison with international practice.
Margaret M McGovern, Rob Elles, Elettra Ronchi, Joe Boone, Ira M Lubin

Genet Test· June 2008

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Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma.
Elles M J Boon, Hélène B Schlecht, Peter Martin, Geoff Daniels, Rolf H A M Vossen, Rob Elles

Prenat Diagn· October 2007

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Report of an international survey of molecular genetic testing laboratories.
Margaret M McGovern, Rob Elles, Isabella Beretta, Martin J Somerville, Gerald Hoefler

Community Genet· August 2007

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Andreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles

Eur J Hum Genet· February 2007

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Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.
Simon J Patton, Andrew J Wallace, Rob Elles

Clin Chem· April 2006

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Prenatal diagnosis in a family with X-linked hydrocephalus.
Maria Panayi, David Gokhale, Sahar Mansour, Rob Elles

Prenat Diagn· October 2005

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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.
Jason Kennedy, Gail C Jackson, Faye S Barker, Seema Nundlall, Jordi Bella, Rob Elles

Hum Mutat· June 2005

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Rob Elles

Eur J Hum Genet· May 2005

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