N S Thomas

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

A Pseudoautosomal Gene in Man

Paul J. Goodfellow, S. M. Darling, N S Thomas et al. · Science · 1986 · 206 citations

Chromatin, Mendelian Disorder, Sex-determining Gene +14

<i>SPRED1</i> mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova et al. · Journal of Medical Genetics · 2009 · 88 citations · Full text

Genetic heterogeneity in X-linked amelogenesis imperfecta

Michael J. Aldred, P J Crawford, Enriqueta Roberts et al. · Genomics · 1992 · 74 citations

Cell Division, Genetics, Molecular Genetics +3

Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region

L.-J. Hu, Jocelyn Laporte, Petra Kioschis et al. · Human Molecular Genetics · 1996 · 68 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16