Author

Julia Batista

University of Plymouth

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

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alessia SoldanoiD· 1 shared Anna Ka‐Yee KwongiD· 1 shared Brian Hon‐Yin ChungiD· 1 shared Celanie K. ChristenseniD· 1 shared Christopher Chun Yu MakiD· 1 shared Daniela IancuiD· 1 shared Erin E. ConboyiD· 1 shared Francesco VetriniiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alessia SoldanoORCID

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1 paper

Recent·Most cited

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Kevin T. A. Booth, Sharayu V. Jangam, Martin Man Chun Chui, Kayla M. Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie K. Christensen, Ty C. Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Ho‐Yin Tsang, Sally Ann Lynch, Sureni V. Mullegama, Julia Batista, , Francesco Vetrini

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

medRxiv · Jul 15, 2023 · PreprintGenetic & Genomic Medicine