Author

Siobhan O’Sullivan

Belfast Health and Social Care Trust

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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Afif Ben‐MahmoudiD· 1 shared Alain VerloèsiD· 1 shared Amit SinghiD· 1 shared Anita M. RauchiD· 1 shared Anne M. ComiiD· 1 shared Annette E. BleyiD· 1 shared Anuradha Venkatakrishnan ChimataiD· 1 shared Aurore GardeiD· 1 shared

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2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Afif Ben‐MahmoudORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 31, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

2 citations

humanwhole-exome sequencing

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