Publications

Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Whole-genome sequencing of rare disease patients in a national…