Various approaches can be applied to uncover the genetic basis of natural phenotypic
variation, each with their specific strengths and limitations. Here, we use a replicated …

Objective Autosomal recessive primary microcephaly (MCPH) is a rare condition
characterized by a reduced cerebral cortex accompanied with intellectual disability …

Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular …

Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated
individuals presenting with an overlapping phenotype of mild to severe intellectual disability …

Objectives: The variability in outcomes of cochlear implantation is largely unexplained, and
clinical factors are not sufficient for predicting performance. Genetic factors have been …

Plant cell cultures in which the appropriate P450 cDNA is introduced are expected to
metabolise certain pesticides in large quantities. Two species of human P450 (CYP1A1 and …

Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple
structural defects with no pathogenic findings in cytogenetic and microarray analyses …

Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as
causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical …

Hox proteins play fundamental roles in controlling morphogenetic diversity along the
anterior–posterior body axis of animals by regulating distinct sets of target genes. Within …

Background and Objectives Our objective was to improve rare variant interpretation using
statistical measures as well as publicly accessible annotation of expression levels and …