Stuart Aitken

This study identifies chromothripsis as a common driver of pleural mesothelioma, linked to gene deletions and poor patient survival.

This paper uses machine learning to predict genomic alterations from H&E images of liver tumors, revealing genotype-phenotype links and highlighting genetic background limitations.

This study shows that genetic background and environmental factors determine the trajectory of cancer evolution in mice, with distinct mutational paths despite similar final tumor states.

The paper investigates how strand-asymmetric processes like replication and transcription influence DNA damage, repair, and mutagenesis, revealing mechanisms that shape cancer genome evolution.

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

IMPROVE-DD integrates multiple phenotype data sources to improve variant evaluation in developmental disorders, showing better diagnostic accuracy and fewer false positives.

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

This study identifies DHX34 as a dual regulator of NMD and pre-mRNA splicing, showing its role in hematopoietic differentiation and disease.

This study shows that SRSF1 shuttling between nucleus and cytoplasm is essential for ciliogenesis and development, as demonstrated by phenotypic defects in a mouse model with nuclear-retained SRSF1.

The paper identifies widespread transcription initiation at microsatellites across species and develops deep learning models to predict STR-associated transcription and its impact on disease variants.

This study shows that slow RNAPII elongation causes embryonic lethality and disrupts splicing and gene expression in neural differentiation.

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

The paper identifies circadian regulation of snoRNA and their coordination with rRNA maturation in nuclear RNA sequencing data.