HONEY V. REDDI
Articles written in Journal of Genetics
Volume 92 Issue 3 December 2013 pp 599-604 Research Note
Honey V. Reddi Brittany C. Thomas Kurt S. Willkomm Matthew J. Ferber Kandelaria M. Rumilla Kimiyo M. Raymond John F. O'Brien W. Edward Highsmith
Volume 96 Issue 4 September 2017 pp 681-685 RESEARCH NOTE
Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel
JEN BEVILACQUA ANDREW HESSE BRIAN CORMIER JENNIFER DAVEY DEVANSHI PATEL KRITIKA SHANKAR HONEY V. REDDI
Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al. 2012; Németh et al. 2013). Our 377 gene epilepsy NGS test was developed to include genes known to cause or have published association with epilepsy and seizure-related disorders. Given the scale of information that is generated, the efficacy of an NGS panel depends on a number of factors, including the genes present on the panel, prebioinformatic and postbioinformatic analysis protocols, as well as reporting criteria, prompting the current study, a retrospective analysis of 305 cases tested for the epilepsy panel.
Volume 102 All articles Published: 9 January 2023 Article ID 0014 RESEARCH NOTE
RUPA UDANI KALA F. SCHILTER REBECCA C. TYLER BRANDON A. SMITH JAIME L. WENDTANDRAE ULRIKE P. KAPPES GUNTER SCHARER ANNA LEHMAN MICHELLE STEINRATHS HONEY V. REDDI
Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the
Volume 102, 2023
All articles
Continuous Article Publishing mode
Click here for Editorial Note on CAP Mode
© 2022-2023 Indian Academy of Sciences, Bengaluru.