Esmee Kasteleijn - Concepedia

Author

Esmee Kasteleijn

Erasmus MC

Also Known As

Esmee Kasteleijn

Publications

363

Citations

H-Index

Concepts

All Affiliations

Erasmus MC Vrije Universiteit Brussel Universitair Ziekenhuis Brussel Inserm University of Washington

About

Esmee Kasteleijn is an author at Erasmus MC specializing in medicine, cell biology, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	309
2	Cell Biology	4	4	241
3	Engineering	1	1	16
4	Natural Sciences	1	1	31
5	Social Sciences	1	1	84

Esmee Kasteleijn

Publications

355

Citations

H-Index

Page 1

	Year	Citations
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, The American Journal of Human Genetics Axon GuidanceMolecular NeuroscienceCellular NeurobiologySynaptic SignalingGar Domain Cause	2018	84
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis Pamela Magini, Daphne J. Smits, Laura Vandervore, The American Journal of Human Genetics Developmental AnomalyDevelopmental Disorder CharacterizedDevelopmental BiologyPathologyCongenital Arthrogryposis	2019	79
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders Jordy Dekker, Rachel Schot, Michiel Bongaerts, The American Journal of Human Genetics Neurodevelopmental DisordersFunctional GenomicsGene Sequence AnnotationMedicineGenetics	2023	52
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities Laura Vandervore, Rachel Schot, Chiara Milanese, The American Journal of Human Genetics Developmental BiologyCell RegulationBrain DevelopmentCellular Redox StateNeural Stem Cell	2019	47
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics Laura Vandervore, Rachel Schot, Esmee Kasteleijn, Brain GeneticsMolecular GeneticsCell CycleDisease Gene IdentificationEpigenetics	2019	31
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i> Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Journal of Medical Genetics	2020	26
Basic Fibroblast Growth Factor Induces Adipogenesis in Orbital Fibroblasts: Implications for the Pathogenesis of Graves' Orbitopathy Benjamin Schrijver, Merel A. Kooiman, Esmee Kasteleijn, Thyroid	2019	20
High‐yield identification of pathogenic <i>NF1</i> variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing Hannie Douben, Mark Nellist, Leontine van Unen, Human Mutation Genetic TestingEngineeringGeneticsRna SplicingPathology	2022	16

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