Tania Attié-Bitach
Affiliations: | Genetics | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
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Collaborators
Sign in to add collaborator| Lynn K. Paul | collaborator | Hôpital Necker-Enfants | |
| Stanislas Lyonnet | collaborator | 1994- | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
| Michel Vekemans | collaborator | 1998- | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
| Heather C. Etchevers | collaborator | 2000-2010 | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
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Publications
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| Hennocq Q, Willems M, Amiel J, et al. (2024) Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome. Scientific Reports. 14: 2330 |
| Hannes L, Atzori M, Goldenberg A, et al. (2023) Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101059 |
| Bourgon N, Chen R, Grangé G, et al. (2023) Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype. Prenatal Diagnosis |
| Sabbagh Q, Haghshenas S, Piard J, et al. (2023) Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101007 |
| Heide S, Argilli E, Valence S, et al. (2023) Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. Journal of Medical Genetics |
| Hennocq Q, Bongibault T, Marlin S, et al. (2023) AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes. Frontiers in Pediatrics. 11: 1171277 |
| Cogan G, Bourgon N, Borghese R, et al. (2023) Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs. Molecular Genetics & Genomic Medicine. e2219 |
| Rive Le Gouard N, Nicolle R, Lefebvre M, et al. (2023) First reports of fetal SMARCC1 related hydrocephalus. European Journal of Medical Genetics. 66: 104797 |
| Kohaut E, Ader F, Rooryck C, et al. (2023) Morphological and genetic causes of fetal cardiomyopathies. Clinical Genetics |
| Aubert-Mucca M, Janel C, Porquet-Bordes V, et al. (2023) Clinical heterogeneity of NADSYN1-associated VCRL syndrome. Clinical Genetics |