Marie-José van den Boogaard

Author

University Medical Center Utrecht

Also Known As

Marie-Jose Van Den Boogaard, Marie-Jose van den Boogaard, Marie-José van den Boogaard, Marie‐Jose van den Boogaard

Publications

638

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht University of Groningen University Medical Center Groningen Cancer Genomics Centre St. Antonius Ziekenhuis

About

Marie-José van den Boogaard is an author at University Medical Center Utrecht specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	254
2	Orthopaedics	2	2	129
3	Anatomy	1	1	31
4	Neurology	1	1	31
5	Pathology	1	1	12

Marie-José van den Boogaard

Publications

599

Citations

H-Index

Page 1

	Year	Citations
Mutations in <i>WNT10A</i> are present in more than half of isolated hypodontia cases Marie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst, Journal of Medical Genetics	2012	214
Rubinstein-Taybi syndrome in the Netherlands Raoul C. M. Hennekam, Marie-José van den Boogaard, Barbara Sibbles, American Journal of Medical Genetics Rubinstein-taybi SyndromeMendelian DisorderCraniofacial DisorderRadiographic CharacteristicsMedicine	2005	117
X-exome sequencing identifies a <i>HDAC8</i> variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face Magdaléna Harakaľová, Marie-José van den Boogaard, Richard J. Sinke, Journal of Medical Genetics	2012	68
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy Chiara Klöckner, Heinrich Sticht, Pia Zacher, Genetics in Medicine Epileptic EncephalopathyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2020	46
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations Sarah Vergult, Ellen van Binsbergen, Tom Sante, European Journal of Human Genetics Developmental BiologyCytogeneticsGenetic DisorderGeneticsAneuploidy	2013	36
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Genetics in Medicine	2022	35
Autosomal dominant craniosynostosis of the sutura metopica Raoul C. M. Hennekam, Marie-José van den Boogaard Clinical Genetics Sutura MetopicaCorticobasal DegenerationAnatomySynapsidaCraniofacial Anomalies	1990	31
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome Andres Ramirez-Martinez, Yichi Zhang, Marie-José van den Boogaard, Journal of Clinical Investigation	2022	28
Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome Raoul C. M. Hennekam, Marie-José van den Boogaard, Piet F. Dijkstra, American Journal of Medical Genetics Thumb HypoplasiaRubinstein-taybi SyndromeMendelian DisorderGenetic DisorderStraight Thumb	2005	12
The association between WNT10A variants and dental development in patients with isolated oligodontia Brunilda Dhamo, Willem Fennis, Marijn Créton, European Journal of Human Genetics Oral CavityGeneticsDental DevelopmentGenetic EpidemiologyOral Biology	2016	12

Page 1