Emma M. Clement

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

The paper identifies MAEA as a critical regulator of DNA repair and replication, with loss of function causing developmental delay and neurodevelopmental deficits.

This study analyzes genetic causes of syndromic and non-syndromic hearing loss in 5,488 individuals from the 100,000 Genomes Project, identifying 273 genes and a 27.5% diagnostic yield.

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.