Nicholas Gleadall

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.