The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns B, Burns NJ, Chandrasekhar A, Chawla A, Chong J, Chopra M, Clause A, DiStefano M, DiTroia S, Elnagheeb M, Girod A, Goel H, Golden-Grant K, Ha T, Hamosh A, Huang J, Hughes M, Jamuar S, Kam S, Kesari A, Koh AL, Lassiter R, Leigh S, Lemire G, Lim JY, Malhotra A, McCurry H, Milewski B, Moosa S, Murray S, Owens E, Palmer E, Palus B, Patel M, Rajkumar R, Ratliff J, Raymond FL, Assis BDRR, Sajan S, Schlachetzki Z, Schmidt S, Stark Z, Strom S, Taylor J, Thaxton C, Thrush D, Toro S, Tshering K, Vasilevsky N, Wayburn B, Webb R, O'Donnell-Luria A, Coffey AJ

Open source

DOI: 10.1101/2024.11.19.24317561
Published: 2024 Nov 20
Container: medRxiv : the preprint server for health sciences
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:10.1101/2024.11.19.24317561,
  title = {The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.},
  author = {Broeren E and Gitau V and Byrne A and Ajuyah P and Balzotti M and Berg J and Bluske K and Bowen BM and Brown MP and Buchanan A and Burns B and Burns NJ and Chandrasekhar A and Chawla A and Chong J and Chopra M and Clause A and DiStefano M and DiTroia S and Elnagheeb M and Girod A and Goel H and Golden-Grant K and Ha T and Hamosh A and Huang J and Hughes M and Jamuar S and Kam S and Kesari A and Koh AL and Lassiter R and Leigh S and Lemire G and Lim JY and Malhotra A and McCurry H and Milewski B and Moosa S and Murray S and Owens E and Palmer E and Palus B and Patel M and Rajkumar R and Ratliff J and Raymond FL and Assis BDRR and Sajan S and Schlachetzki Z and Schmidt S and Stark Z and Strom S and Taylor J and Thaxton C and Thrush D and Toro S and Tshering K and Vasilevsky N and Wayburn B and Webb R and O'Donnell-Luria A and Coffey AJ},
  year = {2024},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2024.11.19.24317561},
  url = {https://doi.org/10.1101/2024.11.19.24317561}
}

RIS

TY  - JOUR
TI  - The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
AU  - Broeren E
AU  - Gitau V
AU  - Byrne A
AU  - Ajuyah P
AU  - Balzotti M
AU  - Berg J
AU  - Bluske K
AU  - Bowen BM
AU  - Brown MP
AU  - Buchanan A
AU  - Burns B
AU  - Burns NJ
AU  - Chandrasekhar A
AU  - Chawla A
AU  - Chong J
AU  - Chopra M
AU  - Clause A
AU  - DiStefano M
AU  - DiTroia S
AU  - Elnagheeb M
AU  - Girod A
AU  - Goel H
AU  - Golden-Grant K
AU  - Ha T
AU  - Hamosh A
AU  - Huang J
AU  - Hughes M
AU  - Jamuar S
AU  - Kam S
AU  - Kesari A
AU  - Koh AL
AU  - Lassiter R
AU  - Leigh S
AU  - Lemire G
AU  - Lim JY
AU  - Malhotra A
AU  - McCurry H
AU  - Milewski B
AU  - Moosa S
AU  - Murray S
AU  - Owens E
AU  - Palmer E
AU  - Palus B
AU  - Patel M
AU  - Rajkumar R
AU  - Ratliff J
AU  - Raymond FL
AU  - Assis BDRR
AU  - Sajan S
AU  - Schlachetzki Z
AU  - Schmidt S
AU  - Stark Z
AU  - Strom S
AU  - Taylor J
AU  - Thaxton C
AU  - Thrush D
AU  - Toro S
AU  - Tshering K
AU  - Vasilevsky N
AU  - Wayburn B
AU  - Webb R
AU  - O'Donnell-Luria A
AU  - Coffey AJ
PY  - 2024
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2024.11.19.24317561
UR  - https://doi.org/10.1101/2024.11.19.24317561
ER  -

APA

E, B., V, G., A, B., P, A., M, B., J, B., K, B., BM, B., MP, B., A, B., B, B., NJ, B., A, C., A, C., J, C., M, C., A, C., M, D., S, D., M, E., A, G., H, G., K, G., T, H., A, H., J, H., M, H., S, J., S, K., A, K., AL, K., R, L., S, L., G, L., JY, L., A, M., H, M., B, M., S, M., S, M., E, O., E, P., B, P., M, P., R, R., J, R., FL, R., BDRR, A., S, S., Z, S., S, S., Z, S., S, S., J, T., C, T., D, T., S, T., K, T., N, V., B, W., R, W., A, O., & AJ, C. (2024). The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2024.11.19.24317561

Source records

pubmed · retrieved 2026-09-27T01:30:45.613Z