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Works (4)

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech

Molecular Autism
2025-02-13 | Journal article
DOI: 10.1186/s13229-025-00642-8
Contributors: Clothilde Ormieres; Marion Lesieur-Sebellin; Karine Siquier-Pernet; Geoffroy Delplancq; Marlene Rio; Mélanie Parisot; Patrick Nitschké; Cristina Rodriguez-Fontenla; Alison Bodineau; Lucie Narcy et al.
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Crossref

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics
2022-08-30 | Journal article
DOI: 10.1016/j.ajhg.2022.08.008
PMID: 36044892
PMC: PMC9606387
Contributors: Quentin Thomas; Motta M; Gautier T; Zaki MS; Ciolfi A; Paccaud J; Girodon F; boespflug-tanguy o; Besnard T; Kerkhof J et al.
Source: Self-asserted source
Marion Lesieur-Sebellin

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

Prenatal diagnosis
2021-12-11 | Journal article
DOI: 10.1002/pd.6074
PMID: 34894355
Contributors: Lesieur-Sebellin M; Till M; Philippe KHAU VAN KIEN; Herve B; Bourgon N; Dupont C; Tabet AC; Barrois M; Coussement A; Loeuillet L et al.
Source: Self-asserted source
Marion Lesieur-Sebellin

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature

European Journal of Medical Genetics
2021-11 | Journal article
DOI: 10.1016/j.ejmg.2021.104323
Contributors: Marion Lesieur-Sebellin; Yline Capri; Margot Grisval; Thomas Courtin; Augustine Burtz; Julien Thevenon; Julien Buratti; Elodie Lejeune; Laurence Faivre; Boris Keren
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