Author

Daniel Buchzik

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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Organism:human· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Adeline L. VanderveriD· 1 shared Alexander J. M. BlakesiD· 1 shared Amitav Parida· 1 shared Anne Dieux· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Arastoo VossoughiD· 1 shared Benjamin CognéiD· 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

Abhijit DixitORCID

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1 paper

Recent·Most cited

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard, Christina Anne Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V. Balton, Giulia Barcia, Jonathan Adam Bernstein, Pierre Blanc, Daniel Buchzik, Daniel G. Calame, , Nicola Whiffin

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

medRxiv · Aug 13, 2025 · PreprintGenetic & Genomic Medicine