Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA

Open source

DOI: 10.1016/j.ajhg.2019.12.007
Published: 2020 Feb 6
Container: American journal of human genetics
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:10.1016/j.ajhg.2019.12.007,
  title = {Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.},
  author = {Beck DB and Petracovici A and He C and Moore HW and Louie RJ and Ansar M and Douzgou S and Sithambaram S and Cottrell T and Santos-Cortez RLP and Prijoles EJ and Bend R and Keren B and Mignot C and Nougues MC and Õunap K and Reimand T and Pajusalu S and Zahid M and Saqib MAN and Buratti J and Seaby EG and McWalter K and Telegrafi A and Baldridge D and Shinawi M and Leal SM and Schaefer GB and Stevenson RE and Banka S and Bonasio R and Fahrner JA},
  year = {2020},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2019.12.007},
  url = {https://doi.org/10.1016/j.ajhg.2019.12.007}
}

RIS

TY  - JOUR
TI  - Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
AU  - Beck DB
AU  - Petracovici A
AU  - He C
AU  - Moore HW
AU  - Louie RJ
AU  - Ansar M
AU  - Douzgou S
AU  - Sithambaram S
AU  - Cottrell T
AU  - Santos-Cortez RLP
AU  - Prijoles EJ
AU  - Bend R
AU  - Keren B
AU  - Mignot C
AU  - Nougues MC
AU  - Õunap K
AU  - Reimand T
AU  - Pajusalu S
AU  - Zahid M
AU  - Saqib MAN
AU  - Buratti J
AU  - Seaby EG
AU  - McWalter K
AU  - Telegrafi A
AU  - Baldridge D
AU  - Shinawi M
AU  - Leal SM
AU  - Schaefer GB
AU  - Stevenson RE
AU  - Banka S
AU  - Bonasio R
AU  - Fahrner JA
PY  - 2020
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2019.12.007
UR  - https://doi.org/10.1016/j.ajhg.2019.12.007
ER  -

APA

DB, B., A, P., C, H., HW, M., RJ, L., M, A., S, D., S, S., T, C., RLP, S., EJ, P., R, B., B, K., C, M., MC, N., K, Õ., T, R., S, P., M, Z., MAN, S., J, B., EG, S., K, M., A, T., D, B., M, S., SM, L., GB, S., RE, S., S, B., R, B., & JA, F. (2020). Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2019.12.007

Source records

pubmed · retrieved 2026-11-10T11:52:51.182Z