Author

Thuong Ha

South Australia PathologyORCID 0000-0002-4408-2613Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Alicia B. ByrneiD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Gabrielle LemireiD· 2 shared Stephanie P. DiTroiaiD· 2 shared Abbe LaiiD· 1 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alicia B. ByrneORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 7, 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

𝕏 PostBluesky