Annette Orsborn

Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Nurit Zaks, JE Balow, Elaine Mansfield et al. · Cell · 1997 · 668 citations

Mendelian Disorder, Genetic Disorder, Medicine +10

Development of a highly sensitive assay, based on the polymerase chain reaction, for rare B‐lymphocyte clones in a polyclonal population

M. J. Brisco, Lindi Tan, Annette Orsborn et al. · British Journal of Haematology · 1990 · 214 citations

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Hamish S. Scott, Lianne C. Blanch, Xiao-Hui Guo et al. · Nature Genetics · 1995 · 151 citations

Biology, Mendelian Disorder, Genetic Disorder +11

Human alpha-L-iduronidase: cDNA isolation and expression.

Hamish S. Scott, D S Anson, Annette Orsborn et al. · Proceedings of the National Academy of Sciences · 1991 · 150 citations · Full text

Genetics, Glycobiology, Molecular Biology +20

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

Elizabeth Baker, X H Guo, Annette Orsborn et al. · PubMed · 1993 · 77 citations