Author

Xin Zhen

Vanderbilt University Medical Center

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 effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrew R. PattersoniD· 1 shared Diana Andrea Herrera-SáncheziD· 1 shared Edgar Alejandro Medina-TorresiD· 1 shared Eric R. GamazoniD· 1 shared Gabriela López‐HerreraiD· 1 shared Janet MarkleiD· 1 shared Jeffrey C. RathmelliD· 1 shared Meltem Ece KarsiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew R. PattersonORCID

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Author profile →

1 paper

Recent·Most cited

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

Xin Zhen, Michael J. Betti, Meltem Ece Kars, Andrew R. Patterson, Edgar Alejandro Medina-Torres, Selma Scheffler‐Mendoza, Diana Andrea Herrera-Sánchez, Gabriela López‐Herrera, Yevgeniya Svyryd, Osvaldo M. Mutchinick, Eric R. Gamazon, Jeffrey C. Rathmell, Yuval Itan, Janet Markle, Patricia María O’Farrill-Romanillos, , Rubén Martínez‐Barricarte

This paper identifies a founder mutation in G6PC3 causing congenital neutropenia and shows it leads to loss of protein function and altered glycolysis.

Journal of Clinical Immunology · Dec 4, 2024Peer-reviewedGenetic & Genomic Medicine