Trine Prescott

TL;DR: Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.

TL;DR: A chromatin-modification module that underlies a recognizable form of ID, the Kleefstra syndrome phenotypic spectrum (KSS), is identified and a highly conserved epigenetic network that underlie cognition in health and disease is proposed.

TL;DR: This high‐throughput genomic approach enabled detection of disease‐related variants in unexpected genes; permitted detection of low‐grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

TL;DR: This study defines the causative role of FAM20C in this lethal osteosclerotic disorder and its crucial role in normal bone development and identifies a chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion in an affected subject.

TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.