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Elena A. Repnikova, Ph.D. - Publications

Affiliations: 
2009 Texas A & M University, College Station, TX, United States 
Area:
Neuroscience Biology, Genetics
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10 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders C. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clinical Genetics. PMID 35533077 DOI: 10.1111/cge.14149  0.344
2021 Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Azevedo Soares C, Tkachenko N, Amudhavalli SM, Engleman K, ... ... Repnikova E, et al. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clinical Genetics. PMID 34164801 DOI: 10.1111/cge.14015  0.355
2019 Botton MR, Lu X, Zhao G, Repnikova E, Seki Y, Gaedigk A, Schadt EE, Edelmann L, Scott SA. Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. Human Mutation. PMID 31260137 DOI: 10.1002/humu.23855  0.339
2019 Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E, Cooley LD, Pfau R, Herman GE, Pyatt RE, Hickey SE. CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. European Journal of Medical Genetics. PMID 30836150 DOI: 10.1016/J.Ejmg.2019.02.008  0.666
2018 Roberts J, Lyalin D, Tosatto N, Rana P, Fadoul H, Welsh H, Zhang L, Cooley L, Repnikova E. Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations. American Journal of Medical Genetics. Part A. PMID 30055081 DOI: 10.1002/ajmg.a.40428  0.67
2014 Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, et al. 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. PMID 23632792 DOI: 10.1038/Ejhg.2013.67  0.317
2013 Islam R, Nakamura M, Scott H, Repnikova E, Carnahan M, Pandey D, Caster C, Khan S, Zimmermann T, Zoran MJ, Panin VM. 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. PMID 23884937 DOI: 10.1523/Jneurosci.5220-12.2013  0.708
2010 Repnikova E, Koles K, Nakamura M, Pitts J, Li H, Ambavane A, Zoran MJ, Panin VM. Sialyltransferase regulates nervous system function in Drosophila. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 6466-76. PMID 20445073 DOI: 10.1523/Jneurosci.5253-09.2010  0.689
2009 Koles K, Repnikova E, Pavlova G, Korochkin LI, Panin VM. Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry. Glycoconjugate Journal. 26: 313-24. PMID 18568399 DOI: 10.1007/S10719-008-9154-4  0.677
2006 Lyalin D, Koles K, Roosendaal SD, Repnikova E, Van Wechel L, Panin VM. 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. PMID 16219785 DOI: 10.1534/Genetics.105.049650  0.595
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