Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk

Quenez, Olivier, Schramm, Catherine, Cassinari, Kévin, Nicolas, Aude, Groeneveld, Joan, Huguet, Guillaume, Grenier-Boley, Benjamin, Hulsman, Marc, Walters, G Bragi, de Rojas, Itziar, Rovelet-Lecrux, Anne, Feuillette, Sébastien, Miguel, Laetitia, Richard, Anne-Claire, Rousseau, Stéphane, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Belbin, Olivia, Bellenguez, Céline, Berr, Claudine, Bossù, Paola, Bouwman, Femke, Bras, Jose, Clarimon, Jordi, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Grünblatt, Edna, Popp, Julius, et al

Open source

DOI: 10.5167/uzh-436583
Published: 2026
Container: Not recorded
Publisher: Elsevier
Open access: no

Credibility signals

limited evidence Score 43/100 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
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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:10.5167/uzh-436583,
  title = {Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk},
  author = {Quenez, Olivier and Schramm, Catherine and Cassinari, Kévin and Nicolas, Aude and Groeneveld, Joan and Huguet, Guillaume and Grenier-Boley, Benjamin and Hulsman, Marc and Walters, G Bragi and de Rojas, Itziar and Rovelet-Lecrux, Anne and Feuillette, Sébastien and Miguel, Laetitia and Richard, Anne-Claire and Rousseau, Stéphane and Ahmad, Shahzad and Amin, Najaf and Amouyel, Philippe and Belbin, Olivia and Bellenguez, Céline and Berr, Claudine and Bossù, Paola and Bouwman, Femke and Bras, Jose and Clarimon, Jordi and Daniele, Antonio and Dartigues, Jean-François and Debette, Stéphanie and Deleuze, Jean-François and Grünblatt, Edna and Popp, Julius and et al},
  year = {2026},
  doi = {10.5167/uzh-436583},
  url = {https://doi.org/10.5167/uzh-436583}
}

RIS

TY  - JOUR
TI  - Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
AU  - Quenez, Olivier
AU  - Schramm, Catherine
AU  - Cassinari, Kévin
AU  - Nicolas, Aude
AU  - Groeneveld, Joan
AU  - Huguet, Guillaume
AU  - Grenier-Boley, Benjamin
AU  - Hulsman, Marc
AU  - Walters, G Bragi
AU  - de Rojas, Itziar
AU  - Rovelet-Lecrux, Anne
AU  - Feuillette, Sébastien
AU  - Miguel, Laetitia
AU  - Richard, Anne-Claire
AU  - Rousseau, Stéphane
AU  - Ahmad, Shahzad
AU  - Amin, Najaf
AU  - Amouyel, Philippe
AU  - Belbin, Olivia
AU  - Bellenguez, Céline
AU  - Berr, Claudine
AU  - Bossù, Paola
AU  - Bouwman, Femke
AU  - Bras, Jose
AU  - Clarimon, Jordi
AU  - Daniele, Antonio
AU  - Dartigues, Jean-François
AU  - Debette, Stéphanie
AU  - Deleuze, Jean-François
AU  - Grünblatt, Edna
AU  - Popp, Julius
AU  - et al
PY  - 2026
DO  - 10.5167/uzh-436583
UR  - https://doi.org/10.5167/uzh-436583
ER  -

APA

Olivier, Q., Catherine, S., Kévin, C., Aude, N., Joan, G., Guillaume, H., Benjamin, G., Marc, H., Bragi, W. G., Itziar, D. R., Anne, R., Sébastien, F., Laetitia, M., Anne-Claire, R., Stéphane, R., Shahzad, A., Najaf, A., Philippe, A., Olivia, B., Céline, B., Claudine, B., Paola, B., Femke, B., Jose, B., Jordi, C., Antonio, D., Jean-François, D., Stéphanie, D., Jean-François, D., Edna, G., Julius, P., & al, E. (2026). Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk. https://doi.org/10.5167/uzh-436583

Source records

datacite · retrieved 2026-11-10T09:38:10.201Z