Research interests

Focus is directed on the clinical history of known genetic entities; pediatric aspects of care to patients with known genetic entities; translational studies; molecular dysmorphology; functional studies; and behavioral aspects of known entities. Entities that are specifically studied are autism; intellectual disability; connective tissue disorders (especially Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome); disorders with abnormal blood vessel and lymph vessel formation; Hutchinson-Gilford progeria; and many specific syndromes.

specialisation

Pediatrics; Clinical Genetics; Translational Medicine

Research output

  1. A specific mutation in TBL1XR1 causes Pierpont syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  2. A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Mutations in ZBTB20 cause Primrose syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Next-Generation Sequencing Demands Next-Generation Phenotyping

    Research output: Contribution to journalArticleAcademicpeer-review

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