O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations

Muhammed Cagri Bayraktutan, Abigail Sveden, Raymond Belanger, Ellen Hanson, Jack Murray, Edward Yang, Jada Cameron, Elizabeth Buttermore, Dustin Gable, Kellen Winden, Celia Tam, Vikram Prakash, Laura Trujillano, Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger, Britton Zuccarelli, Linda Rosetti, Kendra Engleman, Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett, Marco Tartaglia, Seema Lalani, Wen-Hann Tan, Jeanne Amiel, Christopher Gordon, Mustafa Sahin, Maya Chopra

Open source

DOI: 10.1016/j.gimo.2025.102108
Published: 2025
Container: Genetics in Medicine Open
Publisher: Not recorded
Open access: yes

Credibility signals

uncertain Score 53/100 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
supportingDirectory of Open Access Journals: A matching record was returned by DOAJ. 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: 4 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.gimo.2025.102108,
  title = {O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations},
  author = {Muhammed Cagri Bayraktutan and Abigail Sveden and Raymond Belanger and Ellen Hanson and Jack Murray and Edward Yang and Jada Cameron and Elizabeth Buttermore and Dustin Gable and Kellen Winden and Celia Tam and Vikram Prakash and Laura Trujillano and Himanshu Goel and Charlotte von der Lippe and Amelle Shillington and Yvan Herenger and Britton Zuccarelli and Linda Rosetti and Kendra Engleman and Tinatin Tkemaladze and Robert Maiwald and Amaia Lasa Aranzasti and Christopher Barnett and Marco Tartaglia and Seema Lalani and Wen-Hann Tan and Jeanne Amiel and Christopher Gordon and Mustafa Sahin and Maya Chopra},
  year = {2025},
  journal = {Genetics in Medicine Open},
  doi = {10.1016/j.gimo.2025.102108},
  url = {https://doi.org/10.1016/j.gimo.2025.102108}
}

RIS

TY  - JOUR
TI  - O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations
AU  - Muhammed Cagri Bayraktutan
AU  - Abigail Sveden
AU  - Raymond Belanger
AU  - Ellen Hanson
AU  - Jack Murray
AU  - Edward Yang
AU  - Jada Cameron
AU  - Elizabeth Buttermore
AU  - Dustin Gable
AU  - Kellen Winden
AU  - Celia Tam
AU  - Vikram Prakash
AU  - Laura Trujillano
AU  - Himanshu Goel
AU  - Charlotte von der Lippe
AU  - Amelle Shillington
AU  - Yvan Herenger
AU  - Britton Zuccarelli
AU  - Linda Rosetti
AU  - Kendra Engleman
AU  - Tinatin Tkemaladze
AU  - Robert Maiwald
AU  - Amaia Lasa Aranzasti
AU  - Christopher Barnett
AU  - Marco Tartaglia
AU  - Seema Lalani
AU  - Wen-Hann Tan
AU  - Jeanne Amiel
AU  - Christopher Gordon
AU  - Mustafa Sahin
AU  - Maya Chopra
PY  - 2025
JO  - Genetics in Medicine Open
DO  - 10.1016/j.gimo.2025.102108
UR  - https://doi.org/10.1016/j.gimo.2025.102108
ER  -

APA

Bayraktutan, M. C., Sveden, A., Belanger, R., Hanson, E., Murray, J., Yang, E., Cameron, J., Buttermore, E., Gable, D., Winden, K., Tam, C., Prakash, V., Trujillano, L., Goel, H., Lippe, C. V. D., Shillington, A., Herenger, Y., Zuccarelli, B., Rosetti, L., Engleman, K., Tkemaladze, T., Maiwald, R., Aranzasti, A. L., Barnett, C., Tartaglia, M., Lalani, S., Tan, W., Amiel, J., Gordon, C., Sahin, M., & Chopra, M. (2025). O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations. Genetics in Medicine Open. https://doi.org/10.1016/j.gimo.2025.102108

Source records

doaj · retrieved 2026-09-26T10:29:45.311Z