Concepedia

Astrid S. Plomp

AS

43

Publications

3.8K

Citations

33

H-Index

1995

Active since

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

Radboud University Nijmegen

University of Amsterdam

Radboud University Medical Center

Leiden University Medical Center

Astrid S. Plomp is an author at Amsterdam UMC Location University of Amsterdam specializing in medicine, genetics, and molecular genetics.

Top concepts

MedicineGeneticsMolecular GeneticsPathologyMolecular BiologyGenomicsNeurogeneticsNeuropathologySystems BiologyMolecular Diagnostics

Publications per year

1995–2024

43

Publications

43

Mutations in ABCC6 cause pseudoxanthoma elasticum

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

Somatic Variant, Natural Sciences, Genetics +7

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 · 398 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

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 · 298 citations · Full text

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

Elfride De Baere, Diane Beysen, Christine Oley et al. · The American Journal of Human Genetics · 2003 · 240 citations · Full text

Biology, Mutational Hotspots, Allelic Variant +9

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 · 187 citations · Full text

Rows per page

1–5 of 43