Sophie Thomas
Affiliations: | 2005-2010 | INSERM U781, Paris, France |
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Parents
Sign in to add mentor| Heather C. Etchevers | post-doc | 2005-2010 | INSERM U781, Paris, France | |
| (Later recruited as INSERM tenured scientist) | ||||
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Publications
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| 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 |
| Ghesh L, Denis Musquer M, Devisme L, et al. (2021) The first Two non-Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome. Clinical Genetics |
| Billon C, Molin A, Poirsier C, et al. (2020) Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clinical Genetics |
| Le TL, Sribudiani Y, Dong X, et al. (2020) Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics |
| Thomas S, Boutaud L, Reilly ML, et al. (2019) Cilia in hereditary cerebral anomalies. Biology of the Cell |
| Putoux A, Baas D, Paschaki M, et al. (2018) Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. Human Molecular Genetics |
| Barny I, Perrault I, Michel C, et al. (2018) Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. Human Molecular Genetics |
| Quélin C, Loget P, Boutaud L, et al. (2018) Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. American Journal of Medical Genetics. Part A |
| Alby C, Boutaud L, Bessières B, et al. (2018) Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. American Journal of Medical Genetics. Part A. 176: 1091-1098 |