Peter D. Turnpenny
University of Exeter(GB)Royal Devon & Exeter NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Congenital heart defects research
Most-Cited Works
- → HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome(2002)745 cited
- → Genetic studies into inherited and sporadic hemolytic uremic syndrome(1998)493 cited
- → Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis(2000)391 cited
- → Alagille syndrome: pathogenesis, diagnosis and management(2011)390 cited
- → An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation(2006)360 cited
- → Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype(2005)244 cited