# Gene selection for genomic newborn screening: Moving toward consensus?

*PRI Rank #16 · 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-16*

| Field | Value |
| --- | --- |
| Rank | #16 |
| 18m citations | 33 |
| Journal | Genetics in Medicine |
| Year | 2024 |
| DOI | 10.1016/j.gim.2024.101077 |
| Corresponding authors | Zornitza Stark |
| Institution | Murdoch Children's Research Institute, Australia |

**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:** [10.1016/j.gim.2024.101077](https://doi.org/10.1016/j.gim.2024.101077)

## Topics

genomic newborn screening · Gene curation · gene-disease validity · Treatable conditions · Age of disease onset · Gene curation · Gene-disease pairs · Gene curation · metabolic conditions · immunodeficiencies · endocrine disorders · variant detection reliability · Gene curation · Gene curation · Gene curation · international gNBS projects comparison

## 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
```