Author

Poh Hui Chia

Agency for Science, Technology and ResearchORCID 0000-0001-8070-112XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alaa Arafat· 1 shared Andreas MayeriD· 1 shared Annkatrin BressiniD· 1 shared Bruno ReversadeiD· 1 shared Carine BonnardiD· 1 shared Jean‐Laurent CasanovaiD· 1 shared Mohammad El-Khateeb· 1 shared Mohammad ShbouliD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alaa Arafat

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 15, 2022

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia…·Bruno Reversade

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

DOI 10.1101/2022.07.15.22276800

humanbulk RNA-seq

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