Claire Beneteau

12PUBLICATIONS
249CO-AUTHORS
NeurogeneticsMedical molecular engineering of nucleic acids and proteinsNeurology and neuromuscular diseasesObstetrics and gynaecologyDevelopmental genetics (incl. sex determination)
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Publications (12)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Jul 01, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

|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

|Nov 27, 2024
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.

Imène Lafraoui, Abdelkader Heddar, Adèle Cantalloube

|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Jun 07, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Silvestre Cuinat, Chloé Quélin, Claire Effray

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Frequent Collaborators

4 joint publications

Vincent Michaud

3 joint publications

Laurence Faivre

2 joint publications

Silvestre Cuinat

2 joint publications

Anne-Sophie Denommé-Pichon