Nicholas P. Davies

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

Neil V. Morgan, Mark R. Morris, Hakan Cangül et al. · PLoS Genetics · 2010 · 222 citations · Full text

Genetics, Pathology, Molecular Genetics +16

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones et al. · Human Mutation · 2014 · 96 citations · Full text

Cardiac Muscle, Skeletal Muscle Diseases, Genetics +24

Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

S. Alexander Holme, Sharon D. Whatley, Andrew Roberts et al. · Journal of Investigative Dermatology · 2008 · 67 citations

Biology, Skin Development, Developmental Biology +5

Creation of Mice Expressing Human Antibody Light Chains by Introduction of a Yeast Artificial Chromosome Containing the Core Region of the Human Immunoglobulin κ Locus

Nicholas P. Davies, Ian Rosewell, Jenny C. Richardson et al. · Nature Biotechnology · 1993 · 45 citations

Immunogenetics, Chromosome Dynamics, Chromatin Structure +13

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia

Paul Worth, Venkataramanan Srinivasan, Anna Jo Bodurtha Smith et al. · Movement Disorders · 2012 · 37 citations