Author

Florence Amblard

Centre National de la Recherche Scientifique

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander J. M. BlakesiD· 2 shared Caroline NavaiD· 2 shared Cas SimonsiD· 2 shared Catherine Vincent‐DelormeiD· 2 shared Charles CouttoniD· 2 shared Chloe A CunninghamiD· 2 shared Christel DepienneiD· 2 shared Christel Thauvin‐RobinetiD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander J. M. BlakesORCID

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2 papers

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen, Alexander J. M. Blakes, Cas Simons, Rocío Rius, Javeria Raza Alvi, Florence Amblard, Christina Anne Austin-Tse, Sarah Baer, Elsa V. Balton, Pierre Blanc, , Gregory M. Findlay

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

medRxiv · Apr 8, 2025 · PreprintGenetic & Genomic Medicine