Bregje W.M. van Bon - Concepedia

Author

Bregje W.M. van Bon

Also Known As

B W M Van Bon, B W M van Bon, B. W. M. Van Bon, B. van Bon, B.W. Van Bon, B.W. van Bon, B.W.M. van Bon, BW van Bon, BWM van Bon, Bregje Van Bon

139

Publications

13K

Citations

H-Index

104

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Radboud Institute for Molecular Life Sciences University Medical Center Groningen Baylor College of Medicine

About

Bregje W.M. van Bon is an author at Radboud University Nijmegen specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	52	8.3K
2	Health Sciences	4	4	202
3	Engineering	3	3	114
4	Public Health	3	3	466
5	Arts	1	1	67

Bregje W.M. van Bon

Publications

12.6K

Citations

H-Index

Page 1

	Year	Citations
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, New England Journal of Medicine	2012	1.6K
Genome sequencing identifies major causes of severe intellectual disability Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung, Nature Intellectual ImpairmentGeneticsSevere Intellectual DisabilityDisease Gene IdentificationGenomics	2014	1.1K
A de novo paradigm for mental retardation Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen, Nature Genetics Cognitive SciencePsychiatrySyndromic AutismSchizophreniaAutism	2010	849
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
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyMedicine	2010	504
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Genome biology	2014	432
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, Journal of Medical Genetics	2009	366
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Claire Redin, Harrison Brand, Ryan L. Collins, Nature Genetics Human Congenital AnomaliesDevelopmental AnomalyDevelopmental BiologyCytogeneticsGenomic Landscape	2016	346
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Lot Snijders Blok, Erik Madsen, Jane Juusola, The American Journal of Human Genetics Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics	2015	324
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

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