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

IRCCS Ospedale pediatrico Bambino Gesù - Roma
Tuscia University
University of Turin

Research output: Contribution to journal › Article

Original language	English
Pages (from-to)	93-N/A
Journal	Archives of Public Health
Volume	81
DOIs	https://doi.org/10.1186/s13690-023-01112-4
Publication status	Published - 2023

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Diagnostic yield
Health policy
NGS
Paediatrics
Public health

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10.1186/s13690-023-01112-4

Cite this

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

@article{1e2a51133fdc490387bbfff73b9445bb,

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

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",

language = "English",

volume = "81",

pages = "93--N/A",

journal = "Archives of Public Health",

issn = "0778-7367",

publisher = "BioMed Central",

}

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, pp. 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 -

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

UN SDGs

Keywords

Access to Document

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Cite this