Mélanie Fradin

13PUBLICATIONS
233CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesCell and nuclear divisionMetabolic medicineRespiratory diseases
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Publications (13)

|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Feb 05, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Charlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski

|Nov 27, 2025
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson

|Nov 12, 2025
Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Clément Sauvestre, Amel Bouchatal, Claire Beneteau

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

6 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Antonio Vitobello

4 joint publications

Jonathan Levy

4 joint publications

Christophe Philippe