Timothy J. Aitman

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

Plasma Cell-Free DNA in Acute and Chronic Aortic Syndromes.

The paper shows plasma short-fragment cfDNA concentration is higher in acute and chronic aortic disease compared to controls and is higher in acute cases, suggesting it could be a diagnostic biomarker.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Whole-genome sequencing of rare disease patients in a national healthcare system

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

The paper analyzes whole genome sequencing data from an isolated Shetland population, finding increased ultra-rare variants in exonic and regulatory regions compared to mainland Scottish populations.

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.