Rob Elles

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, Lauréane Mittaz‐Crettol, Jacqueline Taylor et al. · Human Mutation · 2011 · 125 citations · Full text

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

Melissa Hill, Celine Lewis, Lucy Jenkins et al. · Expert Opinion on Biological Therapy · 2012 · 46 citations

Novel and recurrent mutations in the C-terminal domain ofCOMP 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 et al. · Human Mutation · 2005 · 46 citations · Full text

Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Simon Patton, Andrew J. Wallace, Rob Elles · Clinical Chemistry · 2006 · 39 citations

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

Andreas Zankl, Gail C. Jackson, Lauréane Mittaz Crettol et al. · European Journal of Human Genetics · 2006 · 33 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9