Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

Andrew H CrosbyRichard H ScottSiddharth Banka James BuchananLouise FishSarah L Wynn Dominic J C WilkinsonSian EllardDaniel G MacArthurZornitza Stark

Published in: Nature medicine (2024)

Keyphrases

copy number

gene expression

genome wide