Anneke T. Vulto‐van Silfhout

Author

Also Known As

A. T. Vulto-van Silfhout, A.T. Vulto-van Silfhout, Anneke T Vulto-van Silfhout, Anneke T. Vulto-van Silfhout, Anneke T. Vulto‐van Silfhout, Anneke T. Vulto-van Silfhout, Spillmann, Rebecca C

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center University of Washington Leiden University Medical Center Inserm

About

Anneke T. Vulto‐van Silfhout is an author at Radboud University Nijmegen specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	20	3.5K
2	Social Sciences	4	4	405
3	Public Health	2	2	291
4	Arts	1	1	67
5	Engineering	1	1	834

Anneke T. Vulto‐van Silfhout

Publications

Citations

H-Index

Page 1

	Year	Citations
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Nucleic Acids Research EngineeringGeneticsUpdated Hpo DatabaseGenetic EpidemiologyMolecular Biology	2013	834
Refining analyses of copy number variation identifies specific genes associated with developmental delay Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Nature Genetics Developmental BiologyDevelopmental GeneticsGeneticsMedicineGenomic Mechanism	2014	734
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Nature Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2	2011	474
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
Update on Kleefstra Syndrome Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, Molecular Syndromology Down SyndromeChromatinDevelopmental BiologyMendelian DisorderEndocrine Disease	2011	178
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Biological Psychiatry Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderBrain DevelopmentComplex Neurodevelopmental Disorder	2018	177
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders Zafar Iqbal, Geert Vandeweyer, Monique van der Voet, Human Molecular Genetics Psychiatric DisordersGeneticsMolecular GeneticsDisease Gene IdentificationSocial Sciences	2013	176
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, The American Journal of Human Genetics	2017	159
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Journal of Medical Genetics	2013	127
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Genetics in Medicine	2018	127

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