Sian Macdonald

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies

The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

Spiroplasma and heat hardening can buffer insect male fertility loss at high temperatures

This study shows that Spiroplasma and heat hardening protect male fertility in Drosophila species under heat stress, reducing climate change risk in D. birchii.