SM Huson

机构：University of Manchester

发表论文 26 篇 · 总被引 886 次 · h-index 8

代表论文

• An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. (1993 · PubMed · 被引 389)
• Ophthalmic manifestations of neurofibromatosis. (1987 · British Journal of Ophthalmology · 被引 125)
• Further genotype – phenotype correlations in neurofibromatosis 2 (2009 · Clinical Genetics · 被引 106)
• Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only (2016 · EBioMedicine · 被引 92)
• Analysis of mutations at the neurofibromatosis 1 (NF1) locus. (1992 · Human Molecular Genetics · 被引 73)
• Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity (2012 · Clinical Genetics · 被引 28)