Author

Dana Marafi

Baylor College of MedicineORCID 0000-0003-2233-3423Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

James R. LupskiiD· 3 shared Jennifer Ellen PoseyiD· 3 shared Alejandro D. IglesiasiD· 2 shared Daniel G. CalameiD· 2 shared Davut Pehli̇vaniD· 2 shared Fowzan Sami AlkurayaiD· 2 shared Ghada M. H. Abdel‐SalamiD· 2 shared Haowei DuiD· 2 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

James R. LupskiORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintMar 1, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang…·James R. Lupski

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

DOI 10.1101/2023.03.01.23286475

humanmouse

𝕏 PostBluesky