Marlies Kempers - Concepedia

Author

Marlies Kempers

Also Known As

M J E Kempers, M Kempers, M. J. E. Kempers, M. Kempers, M.J.E. Kempers, Marlies J E Kempers, Marlies J Kempers, Marlies J. E. Kempers, Marlies J. Kempers, Marlies J.E. Kempers

110

Publications

6.2K

Citations

H-Index

Concepts

All Affiliations

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

About

Marlies Kempers is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	23	2.6K
2	Public Health	5	5	291
3	Social Sciences	2	2	165
4	Engineering	1	1	117
5	Health Sciences	1	1	27

Marlies Kempers

Publications

5.3K

Citations

H-Index

Page 1

	Year	Citations
Inactivating Mutations in the Gene for Thyroid Oxidase 2 (<i>THOX2</i>) and Congenital Hypothyroidism J.C. Moreno, Hennie Bikker, Marlies Kempers, New England Journal of Medicine	2002	474
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Nature Genetics Thoracic Aortic AneurysmSyndromic PresentationDevelopmental BiologyPathologyVascular Biology	2012	454
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Nature Genetics Baraitser-winter SyndromeGenetic DisorderGeneticsPathogenesisMolecular Genetics	2012	304
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Journal of the American College of Cardiology	2015	290
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study Marlies Kempers, Roland P. Kuiper, Charlotte W. Ockeloen, The Lancet Oncology Cancer RiskMedicineColorectal CancerPathologyGynecology	2010	287
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Yu Sun, Beata Bąk, Nadia Schoenmakers, Nature Genetics Developmental BiologyMendelian DisorderCentral HypothyroidismGenetic DisorderGenetics	2012	215
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, European Journal of Human Genetics Neurological DisorderClinical NeurologyBaraitser–winter Cerebrofrontofacial SyndromeNeurologyNeuropathology	2014	171
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Nils Krone, Nicole Reisch, Jan Idkowiak, The Journal of Clinical Endocrinology & Metabolism	2011	163
A Dominant-Negative <i>GFI1B</i> Mutation in the Gray Platelet Syndrome Davide Monteferrario, Nikhita Bolar, Anna E. Marneth, New England Journal of Medicine	2013	162
A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> Dorien Schepers, Giada Tortora, Hiroko Morisaki, Human Mutation	2018	160

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