Alison M. Meynert

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

The paper quantifies signalling effects of CTNNB1 mutations across cancer types and finds weakly activating mutations correlate with worse prognosis in hepatocellular carcinoma.

This study tracks genomic changes in TNBC during neoadjuvant chemotherapy, finding that whole-genome duplication events drive structural alterations and contribute to tumor evolution and response to treatment.

This study identifies two prognostic lymph node subgroups in canine oral mucosal melanoma using transcriptomics, with IBA1 expression linked to improved survival.

The paper identifies two divergent structural variation trajectories in HGSOC that impact patient survival and reveals novel candidate driver genes and mtDNA mutations associated with prognosis.

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

The paper identifies regionally enriched rare deleterious exonic variants in the UK and Ireland using exome sequencing data, highlighting potential implications for genetic screening and counseling.

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

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.

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

The paper identifies EZH2's interaction with MEG3 to regulate integrin signaling and endothelial cell function through epigenetic mechanisms.

The paper identifies genetic polymorphisms preferentially selected during cancer development by analyzing allele retention patterns in TCGA whole exome sequencing data.

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.

This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.

The paper shows heterochromatin slows CRISPR-Cas9 mutagenesis but does not affect repair outcomes, with mutagenesis inhibition depending on Cas9 exposure levels.