Sabine Gijsen - Concepedia

Author

Sabine Gijsen

Radboud University Nijmegen

Also Known As

Sabine Gijsen, Sabine J. Gijsen, Sabine J. Gijsen

Publications

975

Citations

H-Index

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center

About

Sabine Gijsen is an author at Radboud University Nijmegen specializing in medicine, genetics, and genetic engineering.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	433
2	Engineering	1	1	10
3	Biology	1	1	10
4	Cell Biology	1	1	108
5	Molecular Biology	1	1	126

Sabine Gijsen

Publications

975

Citations

H-Index

Page 1

	Year	Citations
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
Next‐generation genetic testing for retinitis pigmentosa Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Human Mutation	2012	284
Multiplex Ligation-Dependent Probe Amplification Judith W. M. Jeuken, S.J.B. Cornelissen, Sandra Boots‐Sprenger, Journal of Molecular Diagnostics BioanalysisMolecular BiologyNucleic Acid Amplification TestNucleic Acid AmplificationBiomedical Analysis	2006	126
RAS/RAF pathway activation in gliomas: the result of copy number gains rather than activating mutations Judith W. M. Jeuken, Caroline Van den Broecke, Sabine Gijsen, Acta Neuropathologica Neuro-oncologyGliomaMedicineRas/raf Pathway ActivationCancer Genomics	2007	108
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl, The American Journal of Human Genetics	2011	98
Homozygous mutation of <i>STXBP5L</i> explains an autosomal recessive infantile-onset neurodegenerative disorder Raman Kumar, Mark Corbett, Nicholas Smith, Human Molecular Genetics	2014	34
Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability Zafar Iqbal, Kornelia Neveling, Attia Razzaq, Archives of Medical Research Developmental BiologyGenetic DisorderGeneticsNext Generation SequencingGenomics	2012	11
Next Generation Genetic Testing for Retinitis Pigmentosa Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Human Mutation BiologyGenetic AnalysisGenetic TestingEngineeringRetinitis Pigmentosa	2013	10

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