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Elena Repnikova, PhD, FACMG

TitleProgram Director, Laboratory Genetics & Genomics Fellowship
InstitutionChildren's Mercy Kansas City
DepartmentLaboratory Genetics & Genomics Fellowship
Address2401 Gillham Rd
Kansas City MO 64108
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    Other Positions
    TitleAssistant Director, Cytogenetics & Molecular Genetics Laboratories
    InstitutionChildren's Mercy Kansas City
    DepartmentCytogenetics & Molecular Genetics Laboratories

    TitleAssociate Professor
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPathology


    Collapse Biography 
    Collapse education and training
    Texas A&M University, College Station, TXPhD2009Genetics
    Ohio State University/Nationwide Children's Hospital, Columbus, OHFellowship2012Clinical Cytogenetics & Molecular Genetics

    Collapse Bibliography 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Lansdon LA, Yoo B, Keskus A, Pushel I, Bi C, Ahmad T, Bryant A, Walter A, Gibson M, Rindler M, Li W, Habeebu SM, Cooley LD, Herriges J, Repnikova E, Zhang L, August KJ, Flatt TG, Gamis AS, Guest EM, Hays JA, Hetherington M, Lewing K, Pastinen T, Kolmogorov M, Farooqi MS. Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing. medRxiv. 2024 Nov 05. PMID: 39802758.
      View in: PubMed
    2. Repnikova EA, Zhang L, Orr BA, Roberts J, Zinkus T, Gener M, Kats A. Focal cortical dysplasia type IIIb associated with a KRAS-mutant ganglioglioma. Cancer Genet. 2024 Nov; 288-289:1-4. PMID: 39146656.
      View in: PubMed
    3. Guess T, Wheeler FC, Yenamandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L. A multicenter analysis of individuals with a 47,XXY/46,XX karyotype. Genet Med. 2024 Oct; 26(10):101212. PMID: 39011769.
      View in: PubMed
    4. Scott KR, Gener MA, Repnikova EA. Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature. J Med Case Rep. 2024 Feb 14; 18(1):95. PMID: 38351155.
      View in: PubMed
    5. Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genet Med Open. 2024; 2. PMID: 39175871.
      View in: PubMed
    6. Cooley LD, Lansdon LA, Laurence K, Herriges JC, Zhang L, Repnikova EA, Joyce J, Thakor P, Warren L, Smith SC, Yoo B, Gener M, Ginn KF, Farooqi MS. Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours. Cancer Genet. 2023 06; 274-275:10-20. PMID: 36917897.
      View in: PubMed
    7. Lansdon LA, Cadieux-Dion M, Herriges JC, Johnston J, Yoo B, Alaimo JT, Thiffault I, Miller N, Cohen ASA, Repnikova EA, Zhang L, Farooqi MS, Farrow EG, Saunders CJ. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. Clin Chem. 2022 09 01; 68(9):1177-1183. PMID: 35869940.
      View in: PubMed
    8. 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 CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141. PMID: 35533077.
      View in: PubMed
    9. Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Diagnostic yield of genetic testing in 324 infants with hypotonia. Clin Genet. 2021 12; 100(6):752-757. PMID: 34480364.
      View in: PubMed
    10. 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, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021 10; 100(4):386-395. PMID: 34164801.
      View in: PubMed
    11. Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing. J Mol Diagn. 2021 05; 23(5):651-657. PMID: 33631350.
      View in: PubMed
    12. Rodr?guez-Palmero A, Boerrigter MM, G?mez-Andr?s D, Aldinger KA, Marcos-Alcalde ?, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogn? B, Coubes C, de Man SA, Denomm?-Pichon AS, Dye TJ, Elmslie F, Feuk L, Garc?a-Mi?a?r S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, M?ller AJ, O'Leary M, Pacio-M?guez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schl?ter A, Sch?newolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldm?ller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, G?mez-Puertas P, Pujol A, T?mer Z. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899. PMID: 33597769.
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    13. Zhang L, Brown LE, Bowen LM, McCarthy LC, Cooley LD, Repnikova E, Gener MA, Garola R, August KJ, Hays JA, Zwick DL, Li W. Application of 2016 WHO classification in the diagnosis of paediatric high-grade MYC-negative mature B-cell lymphoma with Burkitt-like morphological features. J Clin Pathol. 2020 Sep; 73(9):563-570. PMID: 31964683.
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    14. 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. Hum Mutat. 2019 11; 40(11):e37-e51. PMID: 31260137.
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    15. Ahmed AA, Vundamati D, Farooqi M, Repnikova E, Zinkus T, Hetherington M, Paulson L. Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors. Ear Nose Throat J. 2021 Jun; 100(5):NP263-NP268. PMID: 31550935.
      View in: PubMed
    16. Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W. Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases. Pathol Res Pract. 2019 Oct; 215(10):152578. PMID: 31451289.
      View in: PubMed
    17. 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. Eur J Med Genet. 2020 Jan; 63(1):103636. PMID: 30836150.
      View in: PubMed
    18. Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec; 62(12):103588. PMID: 30472488.
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    19. Repnikova E, Roberts J, Kats A, Habeebu S, Schwager C, Joyce J, Manalang M, Amudhavalli SM. Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia. Clin Genet. 2018 12; 94(6):564-568. PMID: 30084132.
      View in: PubMed
    20. 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. Am J Med Genet A. 2018 09; 176(9):2017-2023. PMID: 30055081.
      View in: PubMed
    21. Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. BMC Med Genet. 2018 03 09; 19(1):41. PMID: 29523099.
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    22. Li W, Repnikova E. ALK-positive anaplastic large-cell lymphoma with marked leukemoid reaction and hemophagocytic lymphohistiocytosis. Blood. 2016 Apr 21; 127(16):2041. PMID: 27563714.
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    23. Grote LE, Repnikova EA, Amudhavalli SM. Expanding the phenotype of feingold syndrome-2. Am J Med Genet A. 2015 Dec; 167A(12):3219-25. PMID: 26360630.
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    24. 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. J Neurosci. 2013 Jul 24; 33(30):12306-15. PMID: 23884937.
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    25. Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE. Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization. Forensic Sci Int Genet. 2013 Sep; 7(5):475-81. PMID: 23948316.
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    26. 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, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
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    27. Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. Am J Med Genet A. 2012 Aug; 158A(8):1924-33. PMID: 22786685.
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    28. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63. PMID: 21981781.
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    29. Repnikova E, Koles K, Nakamura M, Pitts J, Li H, Ambavane A, Zoran MJ, Panin VM. Sialyltransferase regulates nervous system function in Drosophila. J Neurosci. 2010 May 05; 30(18):6466-76. PMID: 20445073.
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    30. Koles K, Repnikova E, Pavlova G, Korochkin LI, Panin VM. Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry. Glycoconj J. 2009 Apr; 26(3):313-24. PMID: 18568399.
      View in: PubMed
    31. 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. 2006 Jan; 172(1):343-53. PMID: 16219785.
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