Skip to content

Publications

Explore our range of publications, from published scientific papers to industry articles and thought leadership.

2020, BMC Medical Genetics

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

2020, Human Mutation

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

2019, Ultrasound Obstet Gynecol

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

2019, npj Genomic Medicine

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

2019, Human Mutation

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

2019, The Lancet

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…

pinterest Twitter Facebook email LinkedIn < Back to top