Nicolas Chassaing
Affiliations: | 2009-2013 | Genetics | Université Toulouse III - Paul Sabatier, Toulouse, Occitanie, France |
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Parents
Sign in to add mentor| Heather C. Etchevers | grad student | 2009-2013 | Université Toulouse III - Paul Sabatier | |
| (Co-advisor with Professor Patrick Calvas) | ||||
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Publications
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| Chesneau B, Calvas P, Cassagne M, et al. (2024) ITPR1: The missing gene in miosis-ataxia syndrome? American Journal of Medical Genetics. Part A. e63655 |
| Plaisancié J, Chesneau B, Fares-Taie L, et al. (2024) Structural Variant Disrupting the Expression of the Remote Gene in a Patient with Syndromic Complex Microphthalmia. International Journal of Molecular Sciences. 25 |
| AlAbdi L, Rahbeeni Z, Maddirevula S, et al. (2024) A founder variant expands the phenotype of WNT7B-related PDAC syndrome. Clinical 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 |
| Santorini M, Chesneau B, Koskas-Boublil P, et al. (2023) First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. American Journal of Medical Genetics. Part A |
| Bouasker S, Patel N, Greenlees R, et al. (2022) Bi-allelic variants in disrupt the development of multiple organs in humans. Journal of Medical Genetics |
| Chesneau B, Aubert-Mucca M, Fremont F, et al. (2022) First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical Genetics |
| Kalantari S, Carlston C, Alsaleh N, et al. (2021) Expanding the KIF4A-associated phenotype. American Journal of Medical Genetics. Part A |
| Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, et al. (2020) Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma. European Journal of Human Genetics : Ejhg |
| Dubucs C, Chassaing N, Sergi C, et al. (2020) Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations |