Elena A. Repnikova, Ph.D.
Affiliations: | 2009 | Texas A & M University, College Station, TX, United States |
Area:
Neuroscience Biology, GeneticsGoogle:
"Elena Repnikova"Mean distance: 42746.4
Parents
Sign in to add mentor| Vladislav M. Panin | grad student | 2009 | Texas A & M | |
| (Role of sialylation in the nervous system development of Drosophila melanogaster.) | ||||
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Publications
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| Cadieux-Dion M, Farrow E, Thiffault I, et al. (2022) Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clinical Genetics |
| Uguen K, Krysiak K, Audebert-Bellanger S, et al. (2021) Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clinical Genetics |
| Botton MR, Lu X, Zhao G, et al. (2019) Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. Human Mutation |
| Repnikova EA, Lyalin DA, McDonald K, et al. (2019) CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. European Journal of Medical Genetics |
| Roberts J, Lyalin D, Tosatto N, et al. (2018) Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations. American Journal of Medical Genetics. Part A |
| Mullegama SV, Rosenfeld JA, Orellana C, et al. (2014) Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics : Ejhg. 22: 57-63 |
| Islam R, Nakamura M, Scott H, et al. (2013) The role of Drosophila cytidine monophosphate-sialic acid synthetase in the nervous system. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 12306-15 |
| Repnikova E, Koles K, Nakamura M, et al. (2010) Sialyltransferase regulates nervous system function in Drosophila. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 6466-76 |
| Koles K, Repnikova E, Pavlova G, et al. (2009) Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry. Glycoconjugate Journal. 26: 313-24 |
| Lyalin D, Koles K, Roosendaal SD, et al. (2006) The twisted gene encodes Drosophila protein O-mannosyltransferase 2 and genetically interacts with the rotated abdomen gene encoding Drosophila protein O-mannosyltransferase 1. Genetics. 172: 343-53 |