Author

Shania Wu

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

Frequent Co-Authors

Alex W.H. ChaniD· 1 shared Bhooma ThiruvahindrapuramiD· 1 shared Brett TrostiD· 1 shared David J. MageriD· 1 shared Elemi BreetveltiD· 1 shared Faraz AliiD· 1 shared Giovanna PellecchiaiD· 1 shared Jacob A. S. VorstmaniD· 1 shared

Activity by Year

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

Alex W.H. ChanORCID

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1 paper

Recent·Most cited

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism

Worrawat Engchuan, Kara Han, Rayssa M.M.W. Feitosa, Nelson Bautista Salazar, David J. Mager, Shania Wu, Faraz Ali, Alex W.H. Chan, Marla Mendes de Aquino, Xiaopu Zhou, Rulan Shaath, Nickie Safarian, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, , Jacob A. S. Vorstman

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

medRxiv · Oct 17, 2025 · PreprintGenetic & Genomic Medicine