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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| Cuinat S, Quélin C, Effray C, et al. (2024) Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of Medical Genetics |
| Faviez C, Chen X, Garcelon N, et al. (2024) Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. Bmc Medical Informatics and Decision Making. 24: 134 |
| Watts LM, Bertoli M, Attie-Bitach T, et al. (2024) The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European Journal of Human Genetics : Ejhg |
| Hennocq Q, Garcelon N, Bongibault T, et al. (2024) Artificial intelligence-based diagnosis in fetal pathology using external ear shapes. Prenatal Diagnosis |
| Nicolle R, Boutaud L, Loeuillet L, et al. (2024) Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct. European Journal of Human Genetics : Ejhg |
| 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 |