Author

Kandamurugu Manickam

2 papers indexed here

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Review Open access Sep 2026

A standardized framework to assess the clinical actionability of genes and associatedconditions for population-based genomic screening.

BACKGROUND As population-based genomic screening (PGS) programs are increasingly implemented, standardized, evidence-based approaches are needed to support decision-making about which genetic findings should be returned based on clinical actionability. The Clinical Genome Resource (ClinGen) Actionability Framework, whi...

J. Hunter, C. Allen, J. S. Berg et al. · Public Health Genomics · 0 citations

Case report Open access Aug 2026

Familial Isolated Tetralogy of Fallot Associated With JAG1 Variant: Justifying Phenotype-Agnostic Genetic Workup for Critical Congenital Heart Disease.

Alagille syndrome (ALGS) is a rare, typically multisystem genetic disorder that impacts the liver, heart, eyes, vertebrae, and other areas of development. A clinical diagnosis can be established through defined clinical diagnostic criteria, while a molecular diagnosis requires the presence of a heterozygous pathogenic...

Ava Willoughby, Umamaheswaran Gurusamy, Blythe Moreland et al. · American Journal of Medical... · 0 citations