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Gaëlle Hayot
Gaëlle Hayot
Post Doctoral Researcher, Karlsruhe Institute of Technology
在 kit.edu 的电子邮件经过验证
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Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ...
The American Journal of Human Genetics 99 (1), 174-187, 2016
1722016
A dominant vimentin variant causes a rare syndrome with premature aging
B Cogné, JE Bouameur, G Hayot, X Latypova, S Pattabiraman, A Caillaud, ...
European Journal of Human Genetics 28 (9), 1218-1230, 2020
312020
De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal extension and cause a severe form of neurodevelopmental disorder
F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, MV Hinckelmann, ...
The American Journal of Human Genetics 106 (4), 438-452, 2020
312020
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance
G Hayot, M Massonot, C Keime, E Faure, C Golzio
Life Science Alliance 6 (1), 2023
112023
Evaluating Toxicity of Chemicals using a Zebrafish Vibration Startle Response Screening System
G Hayot, D Marcato, CAC von Clausbruch, G Pace, U Strähle, ...
J. Vis. Exp 203, e66153, 2024
22024
CHD8-associated gastrointestinal complaints are caused by impaired vagal neural crest development and homeostatic imbalance
G Hayot, M Massonot, C Keime, E Faure, C Golzio
bioRxiv, 2021.10. 06.463249, 2021
22021
Development of a Benzophenone-Free Red Propolis Extract and Evaluation of Its Efficacy against Colon Carcinogenesis
IS Squarisi, VP Ribeiro, AB Ribeiro, LTM de Souza, MM Junqueira, ...
Pharmaceuticals 17 (10), 1340, 2024
2024
P02-04 ASPIS Academy: empowering the next generation of toxicologists
E Kuchovska, L Ladeira, G Hayot, R Martinez, B Islam, K Veltman, ...
Toxicology Letters 399, S105-S105, 2024
2024
Phenotypic anchoring for OMICS-guided assessment of liver toxicity in zebrafish
T Dickmeis, G Hayot, CC Clausbruch, R Martinez Lopez, S Scholz, ...
Naunyn-Schmiedeberg's Archives of Pharmacology 396 (S1), 61, 2023
2023
Autism Comorbidities: Role of CHD8 during the Development of the Enteric Nervous System
GL Hayot, C Weber, C Golzio
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 71-71, 2020
2020
De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder
F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, M Hinckelmann, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 33-34, 2020
2020
Role of CHD8 in the gastrointestinal troubles associated with autism spectrum disorders
G Hayot
< bound method Organization. get_name_with_acronym of< Organization: TEL …, 2020
2020
Etude du rôle de CHD8 dans les troubles gastro-intestinaux associés aux troubles du spectre autistique
G Hayot
Université de Strasbourg, 2020
2020
Etude du rôle de CHD8 dans les troubles gastro-intestinaux associés aux troubles du spectre autistique| Theses. fr
G Hayot
Strasbourg, 2020
2020
Chantal Sellier, Alica Goldman, 8 Aida Telegrafi, 9 Alicia Boughton, 10 Candace Gamble, 10 Sebastien Moutton, 7, 11 Angélique Quartier, Nolwenn Jean, 7, 11 Paul Van Ness, 8 …
F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, MV Hinckelmann, ...
The American Journal of Human Genetics 106, 438-452, 2020
2020
Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of …
F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, FT Mau-Them, ...
bioRxiv, 858696, 2019
2019
De novo mutations in NOVA2, a RNA-binding protein, cause intellectual disability with growth retardation and epilepsy
F Mattioli, B Isidor, G Hayot, M Cho, C Golzio, J Mandel, A Piton
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 352-352, 2018
2018
Complex cis-interaction is responsible for the craniofacial and neuroanatomical defects of the 4p16. 1 copy number variant
G Hayot, C Bonnet, N Katsanis, C Golzio
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 109-110, 2018
2018
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