David R. Murdock

Thoracic Aortic Disease in Genetic Syndromes Beyond Established Aortopathy Genes

The paper identifies de novo pathogenic variants in syndromic genes associated with thoracic aortic disease beyond established aortopathy genes.

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload

This study investigates the effect of a rare MYH11 variant in mice, finding it does not cause aortic disease but leads to cardiac hypertrophy and heart failure under pressure overload.

Early Diagnosis of Vascular Ehlers-Danlos Syndrome Through AI-Powered Facial Analysis: Results from the Montalcino Aortic Consortium

The paper develops an AI facial analysis model to diagnose vascular Ehlers-Danlos syndrome (vEDS) using facial images, achieving high accuracy in distinguishing vEDS from controls and hypermobile EDS.

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA

The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.

Genetic Sex Validation for Sample Tracking in Clinical Testing

The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.

Neptune: An environment for the delivery of genomic medicine

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.