Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Matalonga L, Hernández-Ferrer C, Piscia D, Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S, Solve-RD Consortia

Open source

DOI: 10.1038/s41431-021-00852-7
Published: 2021 Sep
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1038/s41431-021-00852-7,
  title = {Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.},
  author = {Matalonga L and Hernández-Ferrer C and Piscia D and Solve-RD SNV-indel working group and Schüle R and Synofzik M and Töpf A and Vissers LELM and de Voer R and Solve-RD DITF-GENTURIS and Solve-RD DITF-ITHACA and Solve-RD DITF-euroNMD and Solve-RD DITF-RND and Tonda R and Laurie S and Fernandez-Callejo M and Picó D and Garcia-Linares C and Papakonstantinou A and Corvó A and Joshi R and Diez H and Gut I and Hoischen A and Graessner H and Beltran S and Solve-RD Consortia},
  year = {2021},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-021-00852-7},
  url = {https://doi.org/10.1038/s41431-021-00852-7}
}

RIS

TY  - JOUR
TI  - Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
AU  - Matalonga L
AU  - Hernández-Ferrer C
AU  - Piscia D
AU  - Solve-RD SNV-indel working group
AU  - Schüle R
AU  - Synofzik M
AU  - Töpf A
AU  - Vissers LELM
AU  - de Voer R
AU  - Solve-RD DITF-GENTURIS
AU  - Solve-RD DITF-ITHACA
AU  - Solve-RD DITF-euroNMD
AU  - Solve-RD DITF-RND
AU  - Tonda R
AU  - Laurie S
AU  - Fernandez-Callejo M
AU  - Picó D
AU  - Garcia-Linares C
AU  - Papakonstantinou A
AU  - Corvó A
AU  - Joshi R
AU  - Diez H
AU  - Gut I
AU  - Hoischen A
AU  - Graessner H
AU  - Beltran S
AU  - Solve-RD Consortia
PY  - 2021
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-021-00852-7
UR  - https://doi.org/10.1038/s41431-021-00852-7
ER  -

APA

L, M., C, H., D, P., group, S. S. W., R, S., M, S., A, T., LELM, V., R, D. V., DITF-GENTURIS, S., DITF-ITHACA, S., DITF-euroNMD, S., DITF-RND, S., R, T., S, L., M, F., D, P., C, G., A, P., A, C., R, J., H, D., I, G., A, H., H, G., S, B., & Consortia, S. (2021). Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-021-00852-7

Source records

pubmed · retrieved 2026-09-26T11:15:31.667Z