Jasper van der Smagt

Author

University Medical Center Utrecht

Also Known As

J. van der Smagt, Jane Hurst, Jasper Van Der Smagt, Jasper Van der Smagt, Jasper van der Smagt, Koen L. van Gassen

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Amsterdam UMC Location University of Amsterdam Inserm University Medical Center Groningen Erasmus MC

About

Jasper van der Smagt is an author at University Medical Center Utrecht specializing in pathology, medicine, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	354
2	Pathology	4	4	354
3	Health Sciences	1	1	43
4	Molecular Genetics	1	1	210
5	Aortic Dissection	1	1	46

Jasper van der Smagt

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan, Circulation	2006	353
Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype Jet Bliek, Marie-José van den Bogaard, Saskia M. Maas, The American Journal of Human Genetics H19 Gene CausesGenetic DisorderGeneticsPathologyMolecular Genetics	2006	210
MLL2 mutation spectrum in 45 patients with Kabuki syndrome Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Human Mutation	2010	146
Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Zahurul A. Bhuiyan, Jan D.H. Jongbloed, Jasper van der Smagt, Circulation Cardiovascular Genetics	2009	91
Spectrum of K <sub>V</sub> 2.1 Dysfunction in <i>KCNB1</i> ‐Associated Neurodevelopmental Disorders Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Annals of Neurology	2019	68
A Systematic Analysis of Genetic Dilated Cardiomyopathy Reveals Numerous Ubiquitously Expressed and Muscle-Specific Genes Magdaléna Harakaľová, Gijs J.M. Kummeling, Arjan Sammani, European Journal of Heart Failure	2015	67
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases Jennifer Kerkhof, Cassandra Rastin, Michael A. Levy, Genetics in Medicine Genetic TestingDiagnostic UtilityMedicineGeneticsDna Methylation	2024	55
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus Magdaléna Harakaľová, Jasper van der Smagt, Carolien G. F. de Kovel, European Journal of Human Genetics Myh11 VariantsPathologyIncomplete SegregationMedicineCardiology	2012	46
Monosomy 20 Mosaicism Revealed by Extensive Karyotyping in Blood and Skin Cells: Case Report and Review of the Literature Ron Hochstenbach, Pieter-Jaap Krijtenburg, Lars T. van der Veken, Cytogenetic and Genome Research CytogeneticsPathologyDermatologyKaryotype ImagingBone Marrow Failure	2014	43
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder Holly Melland, Fabian Bumbak, Anna Kolesnik, Genetics in Medicine	2022	41

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