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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.
Journal articles
hal-01738521v1
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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.
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.
Journal articles
hal-02347889v1
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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.
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.
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.
Journal articles
hal-03621684v1
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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 articles
hal-03173467v1
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