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authFullName_s : Anne-Claude Tabet
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series

Marion Lesieur-Sebellin , Marianne Till , Philippe Khau van Kien , Bérénice Herve , Nicolas Bourgon , et al.
Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩
Journal articles hal-03481652v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1

10q26 deletion syndrome: a French cohort study

Hugo Thorn , Sylvie Odent , Jonathan Levy , Anne-Claude Tabet , Julien Thevenon , et al.
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324
Conference papers hal-03693284v1
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Operative list of genes associated with autism and neurodevelopmental disorders based on database review

Claire S. Leblond , Thuy-Linh Le , Simon Malesys , Freddy Cliquet , Anne-Claude Tabet , et al.
Molecular and Cellular Neuroscience, 2021, 113, pp.103623. ⟨10.1016/j.mcn.2021.103623⟩
Journal articles pasteur-03261328v1
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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Aline Vitrac , Claire Leblond , Thomas Rolland , Freddy Cliquet , Mathieu Alexandre , et al.
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
Journal articles pasteur-04119437v1
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia Loureiro , Jennifer L. Howe , Miriam Reuter , Alana Iaboni , Kristina Calli , et al.
npj Genomic Medicine, 2021, 6 (1), pp.91. ⟨10.1038/s41525-021-00254-0⟩
Journal articles hal-03621684v1

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

Debby M E I Hellebrekers , Tom E J Theunissen , Irenaeus F M de Coo , Hubert J M Smeets , Thuy-Linh Le , et al.
Journal of Clinical Investigation, 2021, 131 (6), ⟨10.1172/jci145837⟩
Journal articles hal-03173467v1