Astrid S. Plomp - Concepedia

Author

Astrid S. Plomp

Amsterdam UMC Location University of Amsterdam

Also Known As

A S Plomp, A. Plomp, A. S. Plomp, A.S. Plomp, Amy Dobson, Astrid Plomp, Astrid S Plomp, Astrid S. Plomp, José Schuil, Monika Oldak

Publications

4.8K

Citations

H-Index

Concepts

All Affiliations

Amsterdam UMC Location University of Amsterdam Radboud University Nijmegen University of Amsterdam Radboud University Medical Center Leiden University Medical Center

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	21	2.1K
2	Natural Sciences	4	4	720
3	Engineering	2	2	159
4	Social Sciences	2	2	117
5	Public Health	1	1	40

Astrid S. Plomp

Publications

3.8K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ABCC6 cause pseudoxanthoma elasticum Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman, Nature Genetics Somatic VariantNatural SciencesGeneticsProtein X-ray CrystallographyDna Replication	2000	597
Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathology	2007	398
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, Arteriosclerosis Thrombosis and Vascular Biology	2014	298
FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation Elfride De Baere, Diane Beysen, Christine Oley, The American Journal of Human Genetics BiologyMutational HotspotsAllelic VariantGenotype-phenotype AssociationGenetic Disorder	2003	240
L1 retrotransposition can occur early in human embryonic development José A. J. M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme, Human Molecular Genetics	2007	187
Diagnostic exome sequencing in 266 Dutch patients with visual impairment Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, European Journal of Human Genetics	2017	149
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, European Journal of Human Genetics BioinformaticsEngineeringGene PanelMedicineGenetics	2016	143
Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy Liesbeth Spruijt, Dinanda N Kolbach, I.F.M. de Coo, American Journal of Ophthalmology	2006	141
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Saskia M. Maas, Adam Shaw, Hennie Bikker, European Journal of Medical Genetics Tricho-rhino-phalangeal SyndromeGeneticsGenetic EpidemiologyGenetic Disorder	2015	119

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