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• ▲ 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
• ▲ Silvère M. van der Maarel

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  21.7k

  citations

  80

  h-index

  77

  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
• ▲ Richard J.L.F. Lemmers

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  8.88k

  citations

  46

  h-index

  24

  Aachen papers
• ▲ Marcel Tijsterman

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  7.22k

  citations

  42

  h-index

  50

  Aachen papers
• ▲ Louise van der Weerd

  Leiden University · Leiden University Medical Center Medicine
  6.33k

  citations

  46

  h-index

  79

  Aachen papers
• ▲ Vered Raz

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  4.48k

  citations

  30

  h-index

  50

  Aachen papers
• ▲ Erik van der Wal

  Leiden University Medical Center Physics and Astronomy
  3.64k

  citations

  16

  h-index

  10

  Aachen papers
• ▲ Jessica C. de Greef

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.97k

  citations

  23

  h-index

  23

  Aachen papers
• ▲ Maaike van Putten

  Leiden University Medical Center · Duchenne Parent Project Biochemistry, Genetics and Molecular Biology
  2.5k

  citations

  26

  h-index

  43

  Aachen papers
• ▲ Marco Barazas

  Leiden University Medical Center Medicine
  2.47k

  citations

  12

  h-index

  7

  Aachen papers
• ▲ Pietro Spitali

  Leiden University Medical Center · Duchenne Parent Project Biochemistry, Genetics and Molecular Biology
  2.28k

  citations

  28

  h-index

  64

  Aachen papers
• ▲ Robin van Schendel

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.16k

  citations

  20

  h-index

  38

  Aachen papers
• ▲ Annika Jacobsen

  Leiden University · Leiden University Medical Center Computer Science
  1.39k

  citations

  16

  h-index

  41

  Aachen papers
• ▲ Iris C. M. Pelsma

  Leiden University · Leiden University Medical Center Medicine
  1.38k

  citations

  13

  h-index

  50

  Aachen papers
• ▲ Silvana M.G. Jirka

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  333

  citations

  6

  h-index

  7

  Aachen papers
• ▲ César H. Bernabé

  University of Illinois Urbana-Champaign · Leiden University Medical Center Computer Science
  257

  citations

  7

  h-index

  36

  Aachen papers
• ▲ Loes Maton

  University Medical Center Groningen · University of Groningen Biochemistry, Genetics and Molecular Biology
  194

  citations

  4

  h-index

  4

  Aachen papers
• ▲ Cyriel Sebastiaan Olie

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  187

  citations

  8

  h-index

  12

  Aachen papers
• ▲ Salma el Abdellaoui

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  99

  citations

  5

  h-index

  9

  Aachen papers
• ▲ Anne-Fleur E. Schneider

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  88

  citations

  4

  h-index

  12

  Aachen papers
• ▲ Daphne Wijnbergen

  Leiden University · Leiden University Medical Center Computer Science
  25

  citations

  3

  h-index

  16

  Aachen papers
• ▲ Pablo Perdomo Quinteiro

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  4

  citations

  1

  h-index

  1

  Aachen papers
• ▲ Karolis Cremers

  Leiden University · Leiden University Medical Center Computer Science
  0

  citations

  0

  h-index

  2

  Aachen papers

25 results

• Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

  2021 JCI Insight article Medicine Amyotrophic Lateral Sclerosis Research Open access

  74

  citations
• Effects of Long-Term Endogenous Corticosteroid Exposure on Brain Volume and Glial Cells in the AdKO Mouse

  2021 Frontiers in Neuroscience article Neuroscience Stress Responses and Cortisol Open access

  32

  citations
• The metabolic landscape in chronic rotator cuff tear reveals tissue‐region‐specific signatures

  2021 Journal of Cachexia Sarcopenia and Muscle article Medicine Shoulder Injury and Treatment Open access

  26

  citations
• FAIR Digital Twins for Data-Intensive Research

  2022 Frontiers in Big Data article Computer Science Research Data Management Practices Open access cited by 2 patents

  24

  citations
• Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

  2020 Genes article Health Professions Electronic Health Records Systems Open access

  19

  citations
• Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability

  2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  13

  citations
• Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy

  2025 Nature Communications article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  10

  citations
• Double-strand breaks in facultative heterochromatin require specific movements and chromatin changes for efficient repair

  2024 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access

  6

  citations
• Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain

  2025 Cells article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  4

  citations
• MUSICiAn: genome-wide identification of genes involved in DNA repair via control-free mutational spectra analysis

  2026 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access

  3

  citations
• Large scale serum proteomics identifies proteins associated with performance decline and clinical milestones in Duchenne muscular dystrophy

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  2

  citations
• Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy

  2025 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  2

  citations
• Guide to Selection of Muscle-Homing Peptides After in Vivo Phage Display Biopanning

  2025 Methods in molecular biology book-chapter Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery

  1

  citations
• Author Correction: Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability

  2021 Scientific Reports erratum Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  1

  citations
• Reduced PABPN1 levels causes cytoskeleton disorganization and aberrant differentiation

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  0

  citations
• 314P Protein biomarkers predicting clinical milestones in Duchenne muscular dystrophy combining natural history and real-world data

  2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders

  0

  citations
• Generation of two iPSC lines with pathogenic DMD nonsense mutations c.4729C>T and c.5713G>T

  2025 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access

  0

  citations
• Rare Disease Data Management across Europe: Insights from the JARDIN Survey on Data Sharing and Interoperability

  2025 Research Square preprint Health Professions Electronic Health Records Systems Open access

  0

  citations
• The JARDIN Hackathon to Seek Solutions to Overcome Technical Barriers in Health Data Exchange: From the Point of Care to European Registry Networks

  2025 Preprints.org preprint Health Professions Electronic Health Records Systems Open access

  0

  citations
• Open Educational Resources on FAIR Data: Preliminary Results from a Systematic Review

  2026 Studies in health technology and informatics book-chapter Computer Science Research Data Management Practices Open access

  0

  citations