Peter D. Turnpenny

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

John D. Carpten, Christiane M. Robbins, Andrea Villablanca et al. · Nature Genetics · 2002 · 742 citations

Parathyroid Hormone, Parathyroid Disease, Pathology +2

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Paul Warwicker, Timothy H.J. Goodship, Rosemary L. Donne et al. · Kidney International · 1998 · 493 citations

Genetic Disorder, Genetics, Genetic Epidemiology +3

Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

Michael Bulman, Kenro Kusumi, Timothy M. Frayling et al. · Nature Genetics · 2000 · 390 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

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

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters et al. · The American Journal of Human Genetics · 2005 · 243 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8