specialisation

Laboratory Specialist in Clinical Genetics (Human Molecular Genetics)

Research interests

Application of next-generation sequencing (genome, exome and targeted sequencing) in patient care with focus on intellectual disability/developmental delay, epilepsy, cardiovascular diseases and genetics of CLL.

Research output

  1. Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties

    Research output: Contribution to journal › Article › Academic › peer-review

  2. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110

    Research output: Contribution to journal › Article › Academic › peer-review

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Projects

  1. Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations

    Project: Research

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ID: 74447