Author

Anne de Saint Martin

Hôpitaux Universitaires de StrasbourgORCID 0000-0003-4666-5369Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:genome assembly· 1

Frequent Co-Authors

Miriam ElbrachtiD· 2 shared A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alba Sanchis‐JuaniD· 1 shared Alice GoldenbergiD· 1 shared Amandine SantiniiD· 1 shared Amélie PitoniD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Miriam ElbrachtORCID

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2 papers

Recent·Most cited

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, Pierre Marijon, Virginie Bernard, Kévin Jousselin, Nicolas Chatron, Giulia Barcia, Boris Keren, Cyril Mignot, Perrine Charles, Thomas Besnard, , Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, Anne de Saint Martin, Marie Therese Abiwarde, Amy McTague, Roser Maria Pons, Amélie Piton, Manju A. Kurian, Gautam Ambegaonkar, Helen V. Firth, Alba Sanchis‐Juan, , Elena Gardella

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

Genetics in Medicine · Dec 6, 2021Peer-reviewedGenetic & Genomic Medicine