Concepedia

Steven P. Read

SP

Statistics

Publications

2

Citations

165

H-Index

2

Active since

2005

Affiliations

Wessex Regional Genetics Laboratory(Current)

Salisbury District Hospital

Steven P. Read is an author at Wessex Regional Genetics Laboratory specializing in molecular genetics, clinical genetics, and medicine.

Top concepts

GeneticsMedicineRare DiseasesSystems BiologyClinical GeneticsMolecular Genetics

Publications per year

2005–2007

2

Publications

2

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

Preeti Bakrania, David Robinson, David J. Bunyan et al. · British Journal of Ophthalmology · 2007 · 111 citations · Full text

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

David Robinson, Simon Hammans, Steven P. Read et al. · Human Genetics · 2005 · 54 citations

Rare Diseases, Mendelian Disorder, Oculopharyngeal Muscular Dystrophy +10

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