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Publications

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

Development of symptomatic Familial Mediterranean Fever (FMF) after kidney transplantation diagnosed through sigmoid colon biopsy: a case report

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

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