Author

Samuel Ma

The University of Texas at Austin

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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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Aoran MaheshatiiD· 1 shared Benjamin TroutwineiD· 1 shared Cheng QiuiD· 1 shared Chenxi YuiD· 1 shared Christina J. SongiD· 1 shared Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study group· 1 shared Di LiuiD· 1 shared Fangzhou Bian· 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

Aoran MaheshatiORCID

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1 paper

Recent·Most cited

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis

Lianlei Wang, Zhaoyang Liu, Sen Zhao, Kexin Xu, Valeria Aceves, Cheng Qiu, Hong Colleen Feng, Fangzhou Bian, Jingyu He, Christina J. Song, Benjamin Troutwine, Lian Liu, Samuel Ma, Yuchen Niu, Shengru Wang, , Jiashen Shao

The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.

Proceedings of the National Academy of Sciences · Jan 24, 2025Peer-reviewedGenetic & Genomic Medicine