Author

Jillian O'Toole

Boston Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander J. M. BlakesiD· 1 shared Alison J. CoffeyiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Carlo RivoltaiD· 1 shared Caroline NavaiD· 1 shared Christel DepienneiD· 1 shared Elston N. D’SouzaiD· 1 shared Maya ChopraiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander J. M. BlakesORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Elston N. D’Souza, Alexander J. M. Blakes, Robin Paluch, Siddharth Banka, Maya Chopra, Alison J. Coffey, Christel Depienne, Wojciech P. Galej, Sylvie Mazoyer, Caroline Nava, Anne O’Donnell‐Luria, Jillian O'Toole, Pia Riestra Crespo, Carlo Rivolta, Stephan J Sanders, Nicola Whiffin

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

medRxiv · Aug 4, 2026 · PreprintGenetic & Genomic Medicine