Christelle Golzio
Affiliations: | 2005-2009 | Université René Descartes Paris V, Paris, Île-de-France, France |
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Parents
Sign in to add mentor| Heather C. Etchevers | grad student | 2005-2009 | Université René Descartes Paris V | |
| (Co-advisor with Professor Stanislas Lyonnet) | ||||
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Publications
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| Asselin L, Rivera Alvarez J, Heide S, et al. (2020) Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nature Communications. 11: 2441 |
| Mattioli F, Hayot G, Drouot N, et al. (2020) 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. American Journal of Human Genetics |
| Cogné B, Bouameur JE, Hayot G, et al. (2020) A dominant vimentin variant causes a rare syndrome with premature aging. European Journal of Human Genetics : Ejhg |
| Nevado J, Ho KS, Zollino M, et al. (2019) International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. American Journal of Medical Genetics. Part A |
| Arbogast T, Razaz P, Ellegood J, et al. (2018) Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Human Molecular Genetics |
| Helm BM, Willer JR, Sadeghpour A, et al. (2017) Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human Genomics. 11: 16 |
| Küry S, Besnard T, Ebstein F, et al. (2017) De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. 100: 689 |
| Küry S, Besnard T, Ebstein F, et al. (2017) De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics |
| Bolar NA, Golzio C, Živná M, et al. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American Journal of Human Genetics. 99: 174-87 |
| Gordon CT, Weaver KN, Zechi-Ceide RM, et al. (2015) Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics. 96: 519-31 |