Astrid S. Plomp

Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations

Life Sciences, Genetics, Molecular Genetics +3

Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis

Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman et al. · The American Journal of Human Genetics · 2007 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report

Robert S. Jansen, Suzanne Duijst, Sunny Mahakena et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2014 · 301 citations · Full text

Life Sciences, Biochemistry, Cell Biology +16

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Diane Beysen, Christine Oley, Birgit Lorenz et al. · The American Journal of Human Genetics · 2003 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

L1 retrotransposition can occur early in human embryonic development

José A. J. M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme et al. · Human Molecular Genetics · 2007 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15