Renske Olmer

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Anne Petrij-Bosch, Tamara Peelen, Margreethe van Vliet et al. · Nature Genetics · 1997 · 445 citations · Full text

Breast Oncology, Somatic Variant, Medicine +8

Rapid detection of BRCA1 mutations by the protein truncation test

Frans B.L. Hogervorst, Renée S. Cornelis, Mattie Bout et al. · Nature Genetics · 1995 · 314 citations · Full text

Somatic Variant, Protein Truncation Test, Medicine +8

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations

M. J. Valstar, Sanne Neijs, Hennie T. Brüggenwirth et al. · Annals of Neurology · 2010 · 185 citations

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

M. J. Valstar, Hennie T. Brüggenwirth, Renske Olmer et al. · Journal of Inherited Metabolic Disease · 2010 · 124 citations · Full text

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Monique Losekoot, E Hoogendoorn, Renske Olmer et al. · Journal of Medical Genetics · 1997 · 62 citations · Full text

Mental Retardation Syndrome, Fragile X Syndrome, Fmr1 Gene +15