Author
King's College LondonORCID 0000-0003-1231-2880Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Lachlan Gilchrist, Oliver Pain, Heather Marriott…·Petroula Proitsi
This study uses polygenic and transcriptional risk scores to analyze psychiatric and cognitive symptoms in Parkinson's disease, finding distinct associations between genetic and transcriptional risks and symptom progression.
Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb…·On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel
The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.
Heather Marriott, Thomas P Spargo, Ahmad Al Khleifat…·Alfredo Iacoangeli
This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.
Heather Marriott, Renata Kabiljo, Ahmad Al Khleifat…·Alfredo Iacoangeli
DNAscan2 is a versatile, scalable, and user-friendly NGS analysis pipeline that supports variant detection and end-to-end data processing.
Renata Kabiljo, Harry Bowles, Heather Marriott…·Alfredo Iacoangeli
RetroSnake detects HERVs in NGS data using an end-to-end pipeline validated by wet-lab experiments, producing annotated insertions in an interactive HTML file.