Repnikova EA - Search Results

1

Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.

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. Lansdon LA, et al. Among authors: repnikova ea. J Mol Diagn. 2021 May;23(5):651-657. doi: 10.1016/j.jmoldx.2021.02.003. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631350 Free article.

2

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I. Cadieux-Dion M, et al. BMC Med Genet. 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. BMC Med Genet. 2018. PMID: 29523099 Free PMC article.

3

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

Roberts J, Lyalin D, Tosatto N, Rana P, Fadoul H, Welsh H, Zhang L, Cooley L, Repnikova E. Roberts J, et al. Am J Med Genet A. 2018 Sep;176(9):2017-2023. doi: 10.1002/ajmg.a.40428. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055081

4

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

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. Bhoj EJ, et al. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.

5

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E, Cooley LD, Pfau R, Herman GE, Pyatt RE, Hickey SE. Repnikova EA, et al. Eur J Med Genet. 2020 Jan;63(1):103636. doi: 10.1016/j.ejmg.2019.02.008. Epub 2019 Mar 2. Eur J Med Genet. 2020. PMID: 30836150

6

Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases.

Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W. Repnikova E, et al. Pathol Res Pract. 2019 Oct;215(10):152578. doi: 10.1016/j.prp.2019.152578. Epub 2019 Aug 5. Pathol Res Pract. 2019. PMID: 31451289

7

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.

Ahmed AA, Vundamati D, Farooqi M, Repnikova E, Zinkus T, Hetherington M, Paulson L. Ahmed AA, et al. Ear Nose Throat J. 2021 Jun;100(5):NP263-NP268. doi: 10.1177/0145561319863371. Epub 2019 Sep 24. Ear Nose Throat J. 2021. PMID: 31550935 Free article.

8

Application of 2016 WHO classification in the diagnosis of paediatric high-grade MYC-negative mature B-cell lymphoma with Burkitt-like morphological features.

Zhang L, Brown LE, Bowen LM, McCarthy LC, Cooley LD, Repnikova E, Gener MA, Garola R, August KJ, Hays JA, Zwick DL, Li W. Zhang L, et al. J Clin Pathol. 2020 Sep;73(9):563-570. doi: 10.1136/jclinpath-2019-206267. Epub 2020 Jan 21. J Clin Pathol. 2020. PMID: 31964683

9

Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.

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. Cadieux-Dion M, et al. Clin Genet. 2022 Aug;102(2):136-141. doi: 10.1111/cge.14149. Epub 2022 May 18. Clin Genet. 2022. PMID: 35533077

10

Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

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. Lansdon LA, et al. Among authors: repnikova ea. Clin Chem. 2022 Sep 1;68(9):1177-1183. doi: 10.1093/clinchem/hvac113. Clin Chem. 2022. PMID: 35869940

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