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…