Jet van der Spek - Concepedia

Author

Jet van der Spek

Radboud University Medical Center ORCID

Also Known As

J. van der Spek, Jet Coenen-van der Spek, Jet van der Spek

Publications

565

Citations

H-Index

Concepts

All Affiliations

Radboud University Medical Center Radboud University Nijmegen University of Amsterdam Université de Montréal Marmara University

About

Jet van der Spek is an author at Radboud University Medical Center specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	274
2	Engineering	1	1	67
3	Biostatistics	1	1	67
4	Blood Transplantation	1	1	56
5	Cellular Therapies	1	1	56

Jet van der Spek

Publications

390

Citations

H-Index

Page 1

	Year	Citations
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, The Lancet Diabetes & Endocrinology Disease CharacteristicsDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis	2020	107
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Nature Genetics Phenotypic VariationEngineeringMachine-learning FrameworkGeneticsBiometrics	2023	67
Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Waleed Al–Herz, Julia Chu, Jet van der Spek, Journal of Allergy and Clinical Immunology Cell TherapyTransplantationAutoimmune DiseaseMarrow TransplantationBone Marrow Failure	2016	56
Growth of human foreskin fibroblasts in a serum‐free, defined medium without platelet‐derived growth factor Robert S. Weinstein, G A Hoover, Joseph M. Majure, Journal of Cellular Physiology	1982	37
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome Roxane Labrosse, Julia Chu, Myriam Armant, Blood	2023	37
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Genetics in Medicine Developmental BiologyMendelian DisorderGenetic DisorderGeneticsSnijders Blok-campeau Syndrome	2022	29
Separate signaling events control TCR downregulation and T cell activation in primary human T cells Lieve E. H. van der Donk, Louis S. Ates, Jet van der Spek, Immunity Inflammation and Disease	2020	25
Outcome of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome Roxane Labrosse, Julia Chu, Myriam Armant, Blood	2019	17
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency Jet van der Spek, Raissa Relator, Jennifer Kerkhof, Genetics in Medicine ChromatinGenetic DisorderEpigenetic ChangeGeneticsDna Methylation	2022	15

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