Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but rais...

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Bibliographic Details
Main Authors: John Christodoulou, Christopher Gyngell, Stephanie Best, Clara Gaff, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Lilian Downie, Sebastian Lunke, David J Amor, Alison Yeung, Simon Sadedin, Fiona Lynch, Sophie E Bouffler, Danya F Vears, Jade Caruana, Alison Archibald, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Riccarda Peters, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall
Format: Article
Language:English
Published: BMJ Publishing Group 2024-04-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/14/4/e081426.full

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