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Publicaties

AA amyloidosis in a father and daughter as complication of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

De novoARHGEF9missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum ofARHGEF9disease in females

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Germline AGO2 mutations impair RNA interference and human neurological development

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