Mihail R. Halachev

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

The paper identifies common early defects in autophagy and mitochondrial damage in multiple IRD models, leading to necroptosis and photoreceptor loss, suggesting potential gene-agnostic therapeutic targets.

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

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.

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.

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.

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.

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.

VEP-G2P filters genomic variants for diagnostic purposes, showing higher sensitivity but lower precision for de novo and inherited variants, with significant background noise in controls.

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