Leontine van Unen - Concepedia

Author

Leontine van Unen

Also Known As

L. M. A. VAN UNEN, L. M. A. van Unen, L. van Unen, Leontine M A van Unen, Leontine M. A. van Unen, Leontine M. van Unen, Leontine M.A. Unen, Leontine M.A. van Unen, Leontine VAN UNEN, Leontine Van Unen

Publications

Citations

H-Index

Concepts

All Affiliations

Erasmus MC Erasmus University Rotterdam University Medical Center Utrecht Utrecht University Inserm

About

Leontine van Unen is an author at Erasmus MC specializing in medicine, genetics, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	13	802
2	Natural Sciences	3	3	158
3	Engineering	1	1	16
4	Biochemistry	1	1	14
5	Biomolecular Engineering	1	1	14

Leontine van Unen

Publications

988

Citations

H-Index

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	Year	Citations
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome Marije Meuwissen, Rachel Schot, Sofija Buta, The Journal of Experimental Medicine Disease EtiologyGeneticsPseudo-torch SyndromeImmunologyPathology	2016	278
Different Targets for the Fragile X-Related Proteins Revealed by Their Distinct Nuclear Localizations Filippo Tamanini, Carola Bontekoe, C.E. Bakker, Human Molecular Genetics X-ray CrystallographyMolecular RegulationMolecular BiologyMolecular GeneticsNormal Fmrp	1999	113
Human mutations in integrator complex subunits link transcriptome integrity to brain development Renske Oegema, David Baillat, Rachel Schot, PLoS Genetics Brain DevelopmentGeneticsGenomic MechanismMolecular GeneticsIntegrator Complex Subunits	2017	107
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P Filippo Tamanini, Leontine van Unen, Cathy Bakker, Biochemical Journal	1999	83
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome Anneke J.A. Kievit, Federico Tessadori, Hannie Douben, European Journal of Human Genetics Signal TransductionCadherin–catenin ComplexPathologyDegenerative DiseaseNeuropathology	2018	69
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
Novel no‐stop <i>FLNA</i> mutation causes multi‐organ involvement in males Renske Oegema, Jessie M. Hulst, Sabine D M Theuns-Valks, American Journal of Medical Genetics Part A Developmental BiologyMendelian DisorderCongenital Short BowelGenetic DisorderGenetics	2013	39
The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies A. T. Hoogeveen, Stefano Rossetti, Violeta Stoyanova, Oncogene Hematological MalignancyChromatinTranscriptional RegulationTranscriptional Corepressor Mtg16aMalignant Blood Disorder	2002	36
Severe presentation of <i>WDR62</i> mutation: Is there a role for modifying genetic factors? Cathryn Poulton, Rachel Schot, Katja Seufert, American Journal of Medical Genetics Part A	2014	35
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

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