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Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

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Title: Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.
Authors: Freeman K; Warwick Medical School, University of Warwick, Coventry, UK., Dinnes J; Institute of Applied Health Research, University of Birmingham, Birmingham, UK., Shinkins B; Warwick Medical School, University of Warwick, Coventry, UK., Clark C; Warwick Medical School, University of Warwick, Coventry, UK., Kander I; Warwick Medical School, University of Warwick, Coventry, UK., Scandrett K; Institute of Applied Health Research, University of Birmingham, Birmingham, UK., Chockalingam S; Warwick Medical School, University of Warwick, Coventry, UK., Osman A; Warwick Medical School, University of Warwick, Coventry, UK., Dracup N; Warwick Medical School, University of Warwick, Coventry, UK., Court R; Warwick Medical School, University of Warwick, Coventry, UK., Butt F; Warwick Medical School, University of Warwick, Coventry, UK., Visintin C; UK National Screening Committee, London, UK., Bonham JR; Sheffield Children's NHS Foundation Trust, Sheffield, UK., Elliman D; Great Ormond Street Hospital, London, UK., Shortland G; UK National Screening Committee, London, UK., Mackie A; UK National Screening Committee, London, UK., Miedzybrodzka Z; Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK., Morgan SM; All Wales Genetics Laboratory, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Boardman F; Warwick Medical School, University of Warwick, Coventry, UK., Takwoingi Y; Institute of Applied Health Research, University of Birmingham, Birmingham, UK., Taylor-Phillips S; Warwick Medical School, University of Warwick, Coventry, UK.
Source: Health technology assessment (Winchester, England) [Health Technol Assess] 2025 Dec; Vol. 29 (65), pp. 1-172.
Publication Type: Journal Article; Systematic Review; Research Support, Non-U.S. Gov't
Journal Info: Publisher: NIHR Journals Library Country of Publication: England NLM ID: 9706284 Publication Model: Print Cited Medium: Internet ISSN: 2046-4924 (Electronic) Linking ISSN: 13665278 NLM ISO Abbreviation: Health Technol Assess Subsets: MEDLINE
Database: MEDLINE Ultimate
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              Text: 2025 Dec
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