# Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

*PRI Rank #3 · Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026/rank-3*

| Field | Value |
| --- | --- |
| Rank | #3 |
| 18m citations | 89 |
| Journal | JAMA |
| Year | 2024 |
| DOI | 10.1001/jama.2024.19662 |
| Corresponding authors | Wendy K. Chung |
| Institution | Columbia University Irving Medical Center, United States |

**Ranking page:** [Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026](https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026)

**Paper link:** [10.1001/jama.2024.19662](https://doi.org/10.1001/jama.2024.19662)

## Topics

Whole genome sequencing · Newborn screening · GUARDIAN study · early-onset genetic conditions · neurodevelopmental disorders · seizure-associated disorders · Dried blood spot · screen-positive rate · targeted gene interpretation · racial and ethnic diversity · genomic newborn screening · New York State Newborn Screening Program · 156 genetic conditions panel · 99 neurodevelopmental disorders panel · biomarker detection · prospective observational study · Expanded newborn screening · Treatable monogenic disorders · multisite enrollment · supplemental genome screening

## Cite this ranking

```
Pepkio Research Index (PRI). Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026. https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026. Accessed 2026-07-24.

Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459
```