Reddi HV - Search Results

1

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.

2

Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.

Schilter KF, Kapoor S, Smith BA, Saleem A, Scott SJ, Batchelor D, Stoll KA, Nie Q, Reddi HV. Schilter KF, et al. Among authors: reddi hv. Lab Med. 2024 May 2;55(3):267-270. doi: 10.1093/labmed/lmad075. Lab Med. 2024. PMID: 37565752

3

Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.

Schilter KF, Dubay S, Stachowiak M, Kaplan A, Stauffenger A, Reddi HV. Schilter KF, et al. Among authors: reddi hv. Biomark Insights. 2023 Jun 2;18:11772719231178618. doi: 10.1177/11772719231178618. eCollection 2023. Biomark Insights. 2023. PMID: 37313115 Free PMC article.

4

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

5

KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.

Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV. Gonzalez T, et al. Among authors: reddi hv. Am J Med Genet A. 2024 Oct 15:e63903. doi: 10.1002/ajmg.a.63903. Online ahead of print. Am J Med Genet A. 2024. PMID: 39404449

6

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

7

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 No abstract available.

8

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.

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

74 results

Search Page

Filters