Erik A. Sistermans - Concepedia

Author

Erik A. Sistermans

Also Known As

Daoud Sie, E A Sistermans, E Sistermans, E. A. Sistermans, E. Sistermans, E.A. Sistermans, EA Sistermans, Elizabeth J Meijers-Heijboer, Eric A. Sistermans, Erik A Sistermans

348

Publications

11.6K

Citations

H-Index

128

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Amsterdam UMC Location Vrije Universiteit Amsterdam Vrije Universiteit Amsterdam Amsterdam University Medical Centers

About

Erik A. Sistermans is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	40	5K
2	Public Health	6	6	340
3	Engineering	3	3	82
4	Health Sciences	2	2	70
5	Natural Sciences	1	1	395

Erik A. Sistermans

101

Publications

10K

Citations

H-Index

Page 1

	Year	Citations
Germline KRAS mutations cause Noonan syndrome Suzanne Schubbert, Martin Zenker, Sara L. Rowe, Nature Genetics Germline Kras MutationsMendelian DisorderGenetic DisorderGeneticsPathogenesis	2006	736
Diagnostic Genome Profiling in Mental Retardation Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink, The American Journal of Human Genetics PsychiatryGeneticsPsychiatric GeneticsSchizophreniaGenomics	2005	603
Guidelines for diagnostic next-generation sequencing Gert Matthijs, Erika Souche, Mariëlle Alders, European Journal of Human Genetics	2015	497
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nature Genetics Genetic DisorderGeneticsCommon Inversion PolymorphismHuman PolymorphismPathology	2006	466
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, The American Journal of Human Genetics Histone ModificationsChromatinGene Deletion DataChromatin StructureSubtelomeric Deletion Syndrome	2006	395
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville, The American Journal of Human Genetics	2019	364
PPIB Mutations Cause Severe Osteogenesis Imperfecta Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra, The American Journal of Human Genetics Bone DiseaseGeneticsOsteoarthritisOsteogenesisOsteoporosis	2009	296
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James J. Cox, John Barber, The American Journal of Human Genetics Molecular CharacterizationGene Deletion DataGenetic DisorderGeneticsPathogenesis	2005	295
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation James Garbern, D. A. Yool, Gregory J. Moore, Brain	2002	294
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Genetics in Medicine	2018	218

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