Joy D. Cogan

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

The paper identifies circ5078 as a BMPR2-derived circular RNA that regulates endothelial proliferation and stress responses in PAH, with opposing effects to linear BMPR2 mRNA.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This study finds accelerated epigenetic aging in individuals at-risk for familial pulmonary fibrosis and patients, independent of telomere-related genetic variants or telomere length.

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

WebSeq provides a web-based platform for analyzing whole exome sequencing data to aid in monogenic disease discovery.

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.

This paper introduces DiGePred, a machine learning tool that identifies potential digenic disease gene pairs, achieving high precision and recall in evaluating rare genetic disorders.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.