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

Freeman K, Dinnes J, Shinkins B, Clark C, Kander I, Scandrett K, Chockalingam S, Osman A, Dracup N, Court R, Butt F, Visintin C, Bonham JR, Elliman D, Shortland G, Mackie A, Miedzybrodzka Z, Morgan SM, Boardman F, Takwoingi Y, Taylor-Phillips S

Open source

DOI
10.3310/djrf1124
Published
2025 Dec
Container
Health technology assessment (Winchester, England)
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.3310/djrf1124,
  title = {Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.},
  author = {Freeman K and Dinnes J and Shinkins B and Clark C and Kander I and Scandrett K and Chockalingam S and Osman A and Dracup N and Court R and Butt F and Visintin C and Bonham JR and Elliman D and Shortland G and Mackie A and Miedzybrodzka Z and Morgan SM and Boardman F and Takwoingi Y and Taylor-Phillips S},
  year = {2025},
  journal = {Health technology assessment (Winchester, England)},
  doi = {10.3310/djrf1124},
  url = {https://doi.org/10.3310/djrf1124}
}

RIS

TY  - JOUR
TI  - Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.
AU  - Freeman K
AU  - Dinnes J
AU  - Shinkins B
AU  - Clark C
AU  - Kander I
AU  - Scandrett K
AU  - Chockalingam S
AU  - Osman A
AU  - Dracup N
AU  - Court R
AU  - Butt F
AU  - Visintin C
AU  - Bonham JR
AU  - Elliman D
AU  - Shortland G
AU  - Mackie A
AU  - Miedzybrodzka Z
AU  - Morgan SM
AU  - Boardman F
AU  - Takwoingi Y
AU  - Taylor-Phillips S
PY  - 2025
JO  - Health technology assessment (Winchester, England)
DO  - 10.3310/djrf1124
UR  - https://doi.org/10.3310/djrf1124
ER  - 

APA

K, F., J, D., B, S., C, C., I, K., K, S., S, C., A, O., N, D., R, C., F, B., C, V., JR, B., D, E., G, S., A, M., Z, M., SM, M., F, B., Y, T., & S, T. (2025). Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.. Health technology assessment (Winchester, England). https://doi.org/10.3310/djrf1124

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