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Leiden University Medical Center
Human Genetics
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36 authors · 74 authorships ·
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36
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▲
Peter Devilee
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
61k
citations
107
h-index
91
Aachen papers
▲
Peter A.C. ’t Hoen
Radboud University Medical Center
Biochemistry, Genetics and Molecular Biology
50.6k
citations
75
h-index
29
Aachen papers
▲
Johan T. den Dunnen
Biochemistry, Genetics and Molecular Biology
36.7k
citations
98
h-index
26
Aachen papers
▲
Arn M. J. M. van den Maagdenberg
Leiden University
·
Leiden University Medical Center
Medicine
27.5k
citations
79
h-index
93
Aachen papers
▲
Ko Willems van Dijk
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
26.9k
citations
78
h-index
168
Aachen papers
▲
Barend Mons
Leiden University Medical Center
Computer Science
24.4k
citations
39
h-index
40
Aachen papers
▲
Marco Roos
Leiden University
·
Leiden University Medical Center
Computer Science
23.4k
citations
34
h-index
103
Aachen papers
▲
Luiz Olavo Bonino da Silva Santos
Leiden University Medical Center
·
University of Twente
Computer Science
21.8k
citations
23
h-index
22
Aachen papers
▲
Annemieke M Aartsma-Rus
Leiden University Medical Center
·
Duchenne Parent Project
Biochemistry, Genetics and Molecular Biology
20.7k
citations
67
h-index
139
Aachen papers
▲
Dorien J.M. Peters
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
15k
citations
61
h-index
56
Aachen papers
▲
Ahmed Essam Mahfouz
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
8.59k
citations
38
h-index
133
Aachen papers
▲
Marcel Tijsterman
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
7.22k
citations
42
h-index
50
Aachen papers
▲
Maaike P.G. Vreeswijk
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
6.41k
citations
42
h-index
52
Aachen papers
▲
Louise van der Weerd
Leiden University
·
Leiden University Medical Center
Medicine
6.33k
citations
46
h-index
79
Aachen papers
▲
Núria Queralt-Rosiñach
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
5.89k
citations
20
h-index
48
Aachen papers
▲
Juan Zhang
Hubei University of Medicine
·
Fujian Medical University
Biochemistry, Genetics and Molecular Biology
5.51k
citations
37
h-index
3
Aachen papers
▲
Jean‐Pierre Bayley
Leiden University
·
Leiden University Medical Center
Medicine
4.9k
citations
30
h-index
15
Aachen papers
▲
Vered Raz
Leiden University
·
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
4.48k
citations
30
h-index
50
Aachen papers
▲
Rajaram Kaliyaperumal
Leiden University Medical Center
Computer Science
2.86k
citations
20
h-index
52
Aachen papers
▲
Marco Barazas
Leiden University Medical Center
Medicine
2.47k
citations
12
h-index
7
Aachen papers
▲
Joost Schimmel
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
2.41k
citations
18
h-index
17
Aachen papers
▲
Robin van Schendel
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
2.16k
citations
20
h-index
38
Aachen papers
▲
Heggert G. Rebel
Leiden University
·
Leiden University Medical Center
Medicine
2.08k
citations
21
h-index
5
Aachen papers
▲
Susan L. Kloet
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
1.67k
citations
20
h-index
49
Aachen papers
▲
Ron J Romeijn
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
880
citations
15
h-index
5
Aachen papers
▲
Tooba Abbassi‐Daloii
Maastricht University
·
Amsterdam University Medical Centers
Biochemistry, Genetics and Molecular Biology
874
citations
12
h-index
12
Aachen papers
▲
Eleni Mina
Leiden University Medical Center
Neuroscience
422
citations
10
h-index
43
Aachen papers
▲
Lejon E. M. Kralemann
Leiden University
·
Leiden University Medical Center
Agricultural and Biological Sciences
368
citations
6
h-index
8
Aachen papers
▲
Inge M. M. Lakeman
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
366
citations
9
h-index
20
Aachen papers
▲
Amanda G. Mason
Leiden University Medical Center
Biochemistry, Genetics and Molecular Biology
349
citations
9
h-index
3
Aachen papers
1–30 of 36
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Open access
The GA4GH Phenopacket schema defines a computable representation of clinical data
2022
Nature Biotechnology
article
Biochemistry, Genetics and Molecular Biology
Biomedical Text Mining and Ontologies
Open access
cited by 2 patents
117
citations
The case for open science: rare diseases
2020
JAMIA Open
article
Computer Science
Research Data Management Practices
Open access
63
citations
Unraveling the Complexity of the Cancer Microenvironment With Multidimensional Genomic and Cytometric Technologies
2020
Frontiers in Oncology
article
Biochemistry, Genetics and Molecular Biology
Single-cell and spatial transcriptomics
Open access
cited by 2 patents
60
citations
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
2020
Journal of Medical Genetics
article
Biochemistry, Genetics and Molecular Biology
BRCA gene mutations in cancer
Open access
48
citations
The VODAN IN: support of a FAIR-based infrastructure for COVID-19
2020
European Journal of Human Genetics
article
Computer Science
Research Data Management Practices
Open access
36
citations
SIQ: easy quantitative measurement of mutation profiles in sequencing data
2022
NAR Genomics and Bioinformatics
article
Biochemistry, Genetics and Molecular Biology
CRISPR and Genetic Engineering
Open access
32
citations
Fasting in diabetes treatment (FIT) trial: study protocol for a randomised, controlled, assessor-blinded intervention trial on the effects of intermittent use of a fasting-mimicking diet in patients with type 2 diabetes
2020
BMC Endocrine Disorders
article
Medicine
Dietary Effects on Health
Open access
28
citations
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
2023
Cell
article
Neuroscience
Genetic Neurodegenerative Diseases
Open access
27
citations
Hematologically important mutations: Leukocyte adhesion deficiency (second update)
2023
Blood Cells Molecules and Diseases
article
Immunology and Microbiology
Immunodeficiency and Autoimmune Disorders
Open access
cited by 1 patent
26
citations
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
2021
Journal of Medical Genetics
article
Medicine
Adrenal and Paraganglionic Tumors
22
citations
Detailed molecular and epigenetic characterization of the pig IPEC-J2 and chicken SL-29 cell lines
2023
iScience
article
Biochemistry, Genetics and Molecular Biology
Genomics and Chromatin Dynamics
Open access
16
citations
Disynaptic Inhibitory Cerebellar Control Over Caudal Medial Accessory Olive
2024
eNeuro
article
Neuroscience
Motor Control and Adaptation
Open access
12
citations
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
2021
Journal of Medical Genetics
article
Medicine
Adrenal and Paraganglionic Tumors
Open access
12
citations
Quantitative analysis of myofiber type composition in human and mouse skeletal muscles
2023
STAR Protocols
article
Biochemistry, Genetics and Molecular Biology
Muscle Physiology and Disorders
Open access
11
citations
Low dose ionizing radiation strongly stimulates insertional mutagenesis in a γH2AX dependent manner
2020
PLoS Genetics
article
Biochemistry, Genetics and Molecular Biology
DNA Repair Mechanisms
Open access
11
citations
Occipital Cortical Calcifications in Cerebral Amyloid Angiopathy
2021
Stroke
article
Medicine
Intracerebral and Subarachnoid Hemorrhage Research
Open access
11
citations
SIQ: easy quantitative measurement of mutation profiles in sequencing data
2022
bioRxiv (Cold Spring Harbor Laboratory)
preprint
Biochemistry, Genetics and Molecular Biology
CRISPR and Genetic Engineering
Open access
7
citations
Coagulation Factors and White Matter Hyperintensities in Middle‐Aged Women With and Without Migraine and Ischemic Stroke
2025
European Journal of Neurology
article
Medicine
Migraine and Headache Studies
Open access
5
citations
Mapping OHDSI OMOP Common Data Model and GA4GH Phenopackets for COVID-19 disease epidemics and analytics
2022
preprint
Biochemistry, Genetics and Molecular Biology
Biomedical Text Mining and Ontologies
Open access
4
citations
Integration of Mass Cytometry and Mass Spectrometry Imaging for Spatially Resolved Single Cell Metabolic Profiling
2023
bioRxiv (Cold Spring Harbor Laboratory)
preprint
Biochemistry, Genetics and Molecular Biology
Metabolomics and Mass Spectrometry Studies
Open access
3
citations
1–20 of 38
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