Gijs W.E. Santen - Concepedia

Author

Gijs W.E. Santen

Also Known As

G Santen, G W E Santen, G. Santen, G.W.E. Santen, Gijs W.E. Santen, Gijs Santen, Gijs W E Santen, Gijs W E. Santen, Gijs W. E. Santen, Gijs W. Santen

167

Publications

6.7K

Citations

H-Index

139

Concepts

All Affiliations

Leiden University Medical Center Radboud University Nijmegen Radboud University Medical Center University of Amsterdam Erasmus MC

About

Gijs W.E. Santen is an author at Leiden University Medical Center specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	29	40	4.7K
2	Public Health	10	10	1.1K
3	Social Sciences	8	8	1.3K
4	Natural Sciences	3	3	517
5	Engineering	2	2	83

Gijs W.E. Santen

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Nature Genetics Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2012	641
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2017	558
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling Clare V. Logan, György Szabadkai, Jenny A. Sharpe, Nature Genetics Mitochondrial MyopathyMitochondrial CalciumMuscle DisorderMolecular NeuroscienceMolecular Physiology	2013	365
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome Gijs W.E. Santen, Emmelien Aten, Yu Sun, Nature Genetics ChromatinGenome InstabilitySwi/snf ChromatinChromatin StructureChromatin Remodeling	2012	348
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Human Mutation GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics	2013	214
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Nature Communications GeneticsMost GenesDisease Gene IdentificationGenomicsNdd Cases	2020	204
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193
Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction Matthias Begemann, Birgit Zirn, Gijs W.E. Santen, New England Journal of Medicine Family MembersHuman GrowthGeneticsGenetic EpidemiologyPathology	2015	186
Skewed X-inactivation is common in the general female population Ekaterina Shvetsova, Alina A. Sofronova, Ramin Monajemi, European Journal of Human Genetics FertilityCytogeneticsGeneticsReproductive HealthGenetic Epidemiology	2018	177
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Nature Neuroscience Neurodevelopmental DisordersNeurodevelopmental Disorder GenesFunctional DomainsDevelopmental BiologyGenetic Disorder	2017	176

Page 1