Author

Abigail Loh

Agency for Science, Technology and ResearchORCID 0000-0003-0038-4510Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Developmental Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:metabolomics· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Bruno ReversadeiD· 4 shared Nathalie Escande‐BeillardiD· 3 shared Hülya KayseriliiD· 2 shared Kortessa SotiropoulouiD· 2 shared Michael MaieriD· 2 shared Afaf Alsubhi· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Ajay Sriram MathuruiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Bruno ReversadeORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 24, 2023

PYCR1 Levels Track with Premature and Chronological Skin Aging

Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano…·Bruno Reversade

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

DOI 10.1101/2023.05.24.23289766

humanproteomics

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Genetic & Genomic MedicinemedRxivPreprintFeb 20, 2022

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

Samantha Y. Wong, Yu Xuan Tan, Kiat Yi Tan…·Bruno Reversade

A germline RAF1 mutation causes a neonatal lethal progeroid syndrome, highlighting RTK signaling's role in human development.

DOI 10.1101/2022.02.20.22271260

humanexperimental assay

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Developmental BiologybioRxivPreprintSep 27, 2021

Omics profiling identifies MAPK/ERK pathway as a gatekeeper of nephron progenitor metabolism

Hyuk Nam Kwon, Kristen Kurtzeborn, Xing Jin…·Satu Kuure

The paper identifies the MAPK/ERK pathway as critical for nephron progenitor metabolism, showing its role in energy and nucleotide biosynthesis, glycolysis, and proline metabolism.

DOI 10.1101/2021.09.27.461969

mousemetabolomics

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMay 25, 2021

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Hui Hui Wong, Sze Hwee Seet, Michael Maier…·Bruno Reversade

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

23 citations

𝕏 PostBluesky