Author

Lucy Loong

Institute of Cancer ResearchORCID 0000-0002-5933-027XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abinayah JohniD· 1 shared Alice GarrettiD· 1 shared Alison CallawayiD· 1 shared Anna KolesnikiD· 1 shared Bethan A. Frugtniet· 1 shared Bethany TorriD· 1 shared CanVIG-UK· 1 shared Charlie F RowlandsiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abinayah JohnORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

Sophie Allen, Charlie F Rowlands, Alice Garrett, Fergus J. Couch, M. E. Richardson, Tina F. Pesaran, Joanna Pethick, Katrina Lavelle, Fiona E. McRonald, Sally Vernon, Bethany Torr, Lucy Loong, Riyaad Aungraheeta, Miranda Durkie, George J. Burghel, , CanVIG-UK

The paper combines enriched case data with population-based case-control analyses using a likelihood-ratio methodology to classify variants in breast cancer susceptibility genes.

medRxiv · May 17, 2026 · PreprintGenetic & Genomic Medicine

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik, Elise Ng‐Cordell, Abinayah John, Panayiotis Constantinou, Shelagh K. Joss, Martin Jakob Larsen, Christina Ringmann Fagerberg, Lone Walentin Laulund, Jenny M. Thies, Frances Emslie, Marjolein H. Willemsen, Tjitske Kleefstra, Rolf Pfundt, , Kate Baker

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

Genetics in Medicine · Jan 28, 2022Peer-reviewedGenetic & Genomic Medicine