Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Mario Cesare Nurchis; Gerardo Andrea Altamura; Maria Teresa Riccardi; Francesca Clementina Radio; Giovanni Chillemi; Enrico Silvio Bertini; Jacopo Garlasco; Marco Tartaglia; Bruno Dallapiccola; Gianfranco Damiani

doi:10.1186/s13690-023-01112-4

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Mario Cesare Nurchis, Gerardo Andrea Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Lingua originale	English
pagine (da-a)	93-N/A
Rivista	Archives of Public Health
Volume	81
DOI	https://doi.org/10.1186/s13690-023-01112-4
Stato di pubblicazione	Pubblicato - 2023

Keywords

Diagnostic yield
Health policy
NGS
Paediatrics
Public health

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Accesso al documento

10.1186/s13690-023-01112-4

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Nurchis, M. C., Altamura, G. A., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023). Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment. Archives of Public Health, 81, 93-N/A. https://doi.org/10.1186/s13690-023-01112-4

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keywords = "Diagnostic yield, Health policy, NGS, Paediatrics, Public health, Diagnostic yield, Health policy, NGS, Paediatrics, Public health",

author = "Nurchis, {Mario Cesare} and Altamura, {Gerardo Andrea} and Riccardi, {Maria Teresa} and Radio, {Francesca Clementina} and Giovanni Chillemi and Bertini, {Enrico Silvio} and Jacopo Garlasco and Marco Tartaglia and Bruno Dallapiccola and Gianfranco Damiani",

year = "2023",

doi = "10.1186/s13690-023-01112-4",

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Nurchis, MC, Altamura, GA, Riccardi, MT, Radio, FC, Chillemi, G, Bertini, ES, Garlasco, J, Tartaglia, M, Dallapiccola, B & Damiani, G 2023, 'Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment', Archives of Public Health, vol. 81, pagg. 93-N/A. https://doi.org/10.1186/s13690-023-01112-4

TY - JOUR

T1 - Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

AU - Nurchis, Mario Cesare

AU - Altamura, Gerardo Andrea

AU - Riccardi, Maria Teresa

AU - Radio, Francesca Clementina

AU - Chillemi, Giovanni

AU - Bertini, Enrico Silvio

AU - Garlasco, Jacopo

AU - Tartaglia, Marco

AU - Dallapiccola, Bruno

AU - Damiani, Gianfranco

PY - 2023

Y1 - 2023

KW - Diagnostic yield

KW - Health policy

KW - NGS

KW - Paediatrics

KW - Public health

KW - Diagnostic yield

KW - Health policy

KW - NGS

KW - Paediatrics

KW - Public health

UR - http://hdl.handle.net/10807/236881

U2 - 10.1186/s13690-023-01112-4

DO - 10.1186/s13690-023-01112-4

M3 - Article

SN - 0778-7367

VL - 81

SP - 93-N/A

JO - Archives of Public Health

JF - Archives of Public Health

ER -