Reddi HV - Search Results

1

Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.

Bevilacqua J, Hesse A, Cormier B, Davey J, Patel D, Shankar K, Reddi HV. Bevilacqua J, et al. Among authors: reddi hv. J Genet. 2017 Sep;96(4):681-685. doi: 10.1007/s12041-017-0791-x. J Genet. 2017. PMID: 28947717 Free article.

2

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic.

Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE. Reddi HV, et al. J Genet. 2013 Dec;92(3):599-604. doi: 10.1007/s12041-013-0303-6. J Genet. 2013. PMID: 24371183 Free article. No abstract available.

3

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Sanmann JN, Casas KA, Bevilacqua J, Bishay DL, Clark T, Van Dyke AZ, Leiferman PC, Reddi HV, Starr LJ. Sanmann JN, et al. Among authors: reddi hv. Am J Med Genet A. 2016 Sep;170(9):2416-20. doi: 10.1002/ajmg.a.37797. Epub 2016 Jun 23. Am J Med Genet A. 2016. PMID: 27338032 Review.

4

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN, Bevilacqua J, Shankar K, Reddi HV. Hesse AN, et al. Among authors: reddi hv. Epilepsy Res. 2018 Aug;144:53-61. doi: 10.1016/j.eplepsyres.2018.05.004. Epub 2018 May 16. Epilepsy Res. 2018. PMID: 29778030

5

Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor^TM Assay.

Sisson BA, Uvalic J, Kelly K, Selvam P, Hesse AN, Ananda G, Chandok H, Bergeron D, Holinka L, Reddi HV. Sisson BA, et al. Among authors: reddi hv. Biomark Insights. 2019 Feb 1;14:1177271919826545. doi: 10.1177/1177271919826545. eCollection 2019. Biomark Insights. 2019. PMID: 30745794 Free PMC article.

6

Evaluating gene fusions in solid tumors - Clinical experience using an RNA based 53 gene next-generation sequencing panel.

Selvam P, Kelly K, Hesse AN, Spitzer D, Reddi HV. Selvam P, et al. Among authors: reddi hv. Cancer Genet. 2019 Apr;233-234:32-42. doi: 10.1016/j.cancergen.2019.03.001. Epub 2019 Mar 7. Cancer Genet. 2019. PMID: 31109592

7

Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.

Rath A, Mishra A, Ferreira VD, Hu C, Omerza G, Kelly K, Hesse A, Reddi HV, Grady JP, Heinen CD. Rath A, et al. Among authors: reddi hv. Hum Mutat. 2019 Nov;40(11):2044-2056. doi: 10.1002/humu.23848. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31237724 Free PMC article.

8

Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay.

Selvam P, Hsiao MC, Omerza G, Bergeron D, Rowe S, Uvalic J, Soucy M, Peracchio M, Burns S, Meyers B, Prego M, Nie Q, Ananda G, Chandok H, Kelly K, Hesse A, Reddi HV. Selvam P, et al. Among authors: reddi hv. Mol Diagn Ther. 2020 Feb;24(1):103-111. doi: 10.1007/s40291-019-00435-9. Mol Diagn Ther. 2020. PMID: 31754995

9

Molecular profiling of CNS tumors for the treatment and management of disease.

Nie Q, Hsiao MC, Chandok H, Rowe S, Prego M, Meyers B, Omerza G, Hesse A, Uvalic J, Soucy M, Bergeron D, Peracchio M, Burns S, Kelly K, Rueter J, Reddi HV. Nie Q, et al. Among authors: reddi hv. J Clin Neurosci. 2020 Jan;71:311-315. doi: 10.1016/j.jocn.2019.11.035. Epub 2019 Dec 16. J Clin Neurosci. 2020. PMID: 31859178

10

Molecular profiling of gynecologic cancers for treatment and management of disease - demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants.

Nie Q, Omerza G, Chandok H, Prego M, Hsiao MC, Meyers B, Hesse A, Uvalic J, Soucy M, Bergeron D, Peracchio M, Burns S, Kelly K, Rowe S, Rueter J, Reddi HV. Nie Q, et al. Among authors: reddi hv. Cancer Genet. 2020 Apr;242:25-34. doi: 10.1016/j.cancergen.2019.11.008. Epub 2020 Jan 14. Cancer Genet. 2020. PMID: 31992506

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