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Gijs Santen

Department of Clinical Genetics · Leiden University Medical Center

https://researchid.co/gsanten
@lumc.nl
128Scopus Publications
8250Google Scholar Citations
44Google Scholar h-index
87Google Scholar i10-index

Research Interests

Clinical Genetics

Recent Scopus Publications

  1. Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions
    Acta Neuropathologica Communications, 2026
  2. “The Way We Do Things is Unsustainable”—Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics
    Prenatal Diagnosis, 2026
  3. Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
    Genetics in Medicine, 2026
  4. Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis
    Journal of Genetic Counseling, 2026
  5. A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis
    Annals of the Rheumatic Diseases, 2026

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