Sylvie S Odent
8PUBLICATIONS
175CO-AUTHORS
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Publications (8)
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|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
|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas
|Jan 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.Eunhye Lee, Seungmin Sim, Hee-Jung Choi
|Oct 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.Camille Level, Christel Thauvin-Robinet, Christine Binquet
|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.Liselot van der Laan, Karim Karimi, Kathleen Rooney
|Sep 24, 2025
SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.Anna Lokchine, Fang Zhang, Laurence Cluzeau
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Frequent Collaborators
3 joint publications
Laurence Faivre
2 joint publications
David Genevieve
2 joint publications
Alfredo Brusco
2 joint publications
Aurore Garde
2 joint publications
Christele Dubourg
2 joint publications
Christine Binquet
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Christophe Philippe
2 joint publications
Ange-Line Bruel
2 joint publications
Audrey Putoux
