Ennis S

ORCID: 0000-0002-4330-1386 · 3 papers in corpus
2026
Genomic sequencing of multicystic mesothelioma finds cohesin complex mutations associated with disease recurrence in patients referred for cytoreductive surgery and HIPEC.
British journal of cancer ·doi:10.1038/s41416-026-03366-5

BackgroundMulticystic mesothelioma (MCM) is a rare disease and there is debate about it's neoplastic nature with a spectrum of disease behaviour and little known about the genomic profile. In contrast, the genomic profile of malignant perit…

2025
Human Phenotype Ontology (HPO) Mapper: Semantic Mapping of Clinical Findings to the Human Phenotype Ontology Using AI-Powered Embeddings and LLM-Based Quality Control
·doi:10.64898/2025.12.20.25342726

ABSTRACT Background Structured phenotypic annotations linked to genetic data can drive diagnostic insight and therapeutic discovery in complex diseases. However, poor research access to the rich clinical data trapped in unstructured clini…

2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nature genetics ·doi:10.1038/ng.2711

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype da…