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Marie‐José H. van den Boogaard

University Medical Center Utrecht ·
🔎 Find collaborators in Genetics · Molecular Biology →
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Area of research
Genetics · Molecular Biology
Research interest
Research interests include Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Genetics and Neurodevelopmental Disorders, and Ubiquitin and proteasome pathways.
h-index
17
citations
1,674
works
37
NIH funding
—
primary concept
—
email
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Recent publications

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
The American Journal of Human Genetics 2024cited by 14position: middledoi
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Genes 2024cited by 7position: middledoi
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Science Translational Medicine 2023cited by 35position: middledoi
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
The American Journal of Human Genetics 2020cited by 22position: middledoi
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
European Journal of Human Genetics 2018cited by 69position: middledoi
The ontogeny of Robin sequence
American Journal of Medical Genetics Part A 2018cited by 56position: middledoi
Microtia in the Netherlands: Clinical characteristics and associated anomalies
International Journal of Pediatric Otorhinolaryngology 2014cited by 57position: middledoi
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
Journal of Medical Genetics 2012cited by 116position: lastdoi

Grants

No grants ingested yet.

Frequent collaborators

Corstiaan C. Breugem · Utrecht University2 papers (2014–2018)Lisenka E.L.M. Vissers · Radboud University Nijmegen1 papers (2020–2020)Gabriela Purcarin · University of Oklahoma Health Sciences Center1 papers (2020–2020)Koen L.I. van Gassen · Utrecht University1 papers (2020–2020)Amber Begtrup · University of Arkansas for Medical Sciences1 papers (2020–2020)Geniver El Tekle · University of Lausanne1 papers (2020–2020)Tiziano Bernasocchi · University of Lausanne1 papers (2020–2020)— · 1 papers (2020–2020)Daan P. F. van Nunen · Utrecht University1 papers (2014–2014)— · 1 papers (2018–2018)Laurens Wiel · Stanford University1 papers (2020–2020)Sarah L. Sawyer · Hospital for Sick Children1 papers (2020–2020)Aebele B. Mink van der Molen · Utrecht University1 papers (2012–2012)Daniela del Gaudio · University of Chicago1 papers (2020–2020)— · 1 papers (2020–2020)Jennifer Keller‐Ramey · GenVec1 papers (2020–2020)Bert B.A. de Vries · John F. Kennedy University1 papers (2020–2020)— · 1 papers (2020–2020)Moshe Kon · Utrecht University1 papers (2014–2014)— · 1 papers (2018–2018)
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