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

Anne Petrij-Bosch, Tamara Peelen, Margreethe van Vliet, +15

Nature Genetics

Breast OncologySomatic VariantMedicineGeneticsMajor Founder Mutations +6

Rapid detection of BRCA1 mutations by the protein truncation test

Frans B.L. Hogervorst, Renée S. Cornelis, Mattie Bout, +11

Nature Genetics

Somatic VariantProtein Truncation TestMedicineGeneticsProteomics +6

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations

M. J. Valstar, Sanne Neijs, Hennie T. Brüggenwirth, +7

Annals of Neurology

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

M. J. Valstar, Hennie T. Brüggenwirth, Renske Olmer, +5

Journal of Inherited Metabolic Disease

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, +8

Journal of Medical Genetics

Mental Retardation SyndromeFragile X SyndromeFmr1 GeneDevelopmental BiologyMendelian Disorder +13

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

M. J. Valstar, Aida M. Bertoli‐Avella, Marja W. Wessels, +23

Human Mutation

Neurological DisorderImmunodeficienciesGeneticsImmunologyPathology +14

Association of rare MSH6 variants with familial breast cancer

Marijke Wasielewski, Muhammad Riaz, Joyce Vermeulen, +8

Breast Cancer Research and Treatment

Breast OncologyMedicinePathologyBreast CancerCancer Genetics +3

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

Achmad Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, +9

International Journal of Endocrinology

FertilityReproductive HealthDiagnosisGynecologySexual Disorders +23