Stanislas Lyonnet
Affiliations: | INSERM U393 | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
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Sign in to add collaborator| Tania Attié-Bitach | collaborator | 1994- | Université René Descartes (Paris). Faculté de médecine Necker enfants malades |
| Heather C. Etchevers | collaborator | 2002-2012 | INSERM U781, Paris, France |
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| 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 |
| Engal E, Oja KT, Maroofian R, et al. (2023) Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. American Journal of Human Genetics |
| Husson T, Lecoquierre F, Nicolas G, et al. (2023) Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics : Ejhg |
| 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 |
| 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 |
| Ranza E, Le Gouez M, Guimier A, et al. (2022) Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. American Journal of Medical Genetics. Part A |
| Delalande JM, Nagy N, McCann CJ, et al. (2022) Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 15: 871557 |
| Delalande JM, Nagy N, McCann CJ, et al. (2021) TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 14: 757646 |
| Chartier S, Boutaud L, Le Guillou E, et al. (2021) Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Research |
| Chopra M, McEntagart M, Clayton-Smith J, et al. (2021) Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics |