Skip to content

Publications

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

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

BMC Medical Genetics, 2020

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

Human Mutation, 2020

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

Ultrasound Obstet Gynecol, 2019

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

npj Genomic Medicine, 2019

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

Human Mutation, 2019

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 healthcare system

The Lancet, 2019

pinterest Twitter Facebook email LinkedIn < Back to top