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

Quenez O, Schramm C, Cassinari K, Nicolas A, Groeneveld J, Huguet G, Grenier-Boley B, Hulsman M, Walters GB, de Rojas I, Rovelet-Lecrux A, Feuillette S, Miguel L, Richard AC, Rousseau S, Ahmad S, Amin N, Amouyel P, Belbin O, Bellenguez C, Berr C, Bossù P, Bouwman F, Bras J, Clarimon J, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, Dols-Icardo O, van Duijn CM, Fortea J, Fox NC, Frikke-Schmidt R, Galimberti D, Ghidoni R, Giedraitis V, Gille JJP, Grozeva D, Guerreiro R, Grünblatt E, Hardy J, Riedel-Heller SG, Hiltunen M, Holmes C, Hort J, Hummerich H, Ikram MA, Ikram MK, Ingelsson M, Jansen IE, Kawalia A, Kraaij R, Kehoe PG, Lathrop M, Lacour M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Masullo C, Mead S, Mecocci P, de Mendonça A, Meggy A, Mehrabian S, Mol MO, Morgan K, Morin A, Nacmias B, Norsworthy PJ, Olaso R, Pasquier F, Pastor P, Piras F, Popp J, Ramirez A, Raybould R, Redon R, Reinders MJT, Rivadeneira F, van Rooij JGJ, Ryan NS, Saad S, Sanchez-Juan P, Scarmeas N, Scheltens P, Schott JM, Seripa D, Sie D, Sims R, Sistermans EA, Sorbi S, Sleegers K, van Spaendonk R, van Swieten JC, Tesi N, Tijms BM, Tsolaki M, Uitterlinden AG, Vijverberg J, Visser PJ, Wagner M, Williams J, Zarea A, EADB Consortium, Génin E, Holstege H, Gudbjartsson DF, Wallon D, Lecourtois M, Fernandez MV, Stefansson H, Jacquemont S, Lambert JC, van der Lee SJ, Charbonnier C, Nicolas G

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DOI: 10.1016/j.ajhg.2026.07.013
Published: 2026 Aug 26
Container: American journal of human genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.07.013,
  title = {Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.},
  author = {Quenez O and Schramm C and Cassinari K and Nicolas A and Groeneveld J and Huguet G and Grenier-Boley B and Hulsman M and Walters GB and de Rojas I and Rovelet-Lecrux A and Feuillette S and Miguel L and Richard AC and Rousseau S and Ahmad S and Amin N and Amouyel P and Belbin O and Bellenguez C and Berr C and Bossù P and Bouwman F and Bras J and Clarimon J and Daniele A and Dartigues JF and Debette S and Deleuze JF and Denning N and Dols-Icardo O and van Duijn CM and Fortea J and Fox NC and Frikke-Schmidt R and Galimberti D and Ghidoni R and Giedraitis V and Gille JJP and Grozeva D and Guerreiro R and Grünblatt E and Hardy J and Riedel-Heller SG and Hiltunen M and Holmes C and Hort J and Hummerich H and Ikram MA and Ikram MK and Ingelsson M and Jansen IE and Kawalia A and Kraaij R and Kehoe PG and Lathrop M and Lacour M and Lemstra AW and Lleó A and Luckcuck L and Mannens MMAM and Marshall R and Masullo C and Mead S and Mecocci P and de Mendonça A and Meggy A and Mehrabian S and Mol MO and Morgan K and Morin A and Nacmias B and Norsworthy PJ and Olaso R and Pasquier F and Pastor P and Piras F and Popp J and Ramirez A and Raybould R and Redon R and Reinders MJT and Rivadeneira F and van Rooij JGJ and Ryan NS and Saad S and Sanchez-Juan P and Scarmeas N and Scheltens P and Schott JM and Seripa D and Sie D and Sims R and Sistermans EA and Sorbi S and Sleegers K and van Spaendonk R and van Swieten JC and Tesi N and Tijms BM and Tsolaki M and Uitterlinden AG and Vijverberg J and Visser PJ and Wagner M and Williams J and Zarea A and EADB Consortium and Génin E and Holstege H and Gudbjartsson DF and Wallon D and Lecourtois M and Fernandez MV and Stefansson H and Jacquemont S and Lambert JC and van der Lee SJ and Charbonnier C and Nicolas G},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.07.013},
  url = {https://doi.org/10.1016/j.ajhg.2026.07.013}
}

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 O
AU  - Schramm C
AU  - Cassinari K
AU  - Nicolas A
AU  - Groeneveld J
AU  - Huguet G
AU  - Grenier-Boley B
AU  - Hulsman M
AU  - Walters GB
AU  - de Rojas I
AU  - Rovelet-Lecrux A
AU  - Feuillette S
AU  - Miguel L
AU  - Richard AC
AU  - Rousseau S
AU  - Ahmad S
AU  - Amin N
AU  - Amouyel P
AU  - Belbin O
AU  - Bellenguez C
AU  - Berr C
AU  - Bossù P
AU  - Bouwman F
AU  - Bras J
AU  - Clarimon J
AU  - Daniele A
AU  - Dartigues JF
AU  - Debette S
AU  - Deleuze JF
AU  - Denning N
AU  - Dols-Icardo O
AU  - van Duijn CM
AU  - Fortea J
AU  - Fox NC
AU  - Frikke-Schmidt R
AU  - Galimberti D
AU  - Ghidoni R
AU  - Giedraitis V
AU  - Gille JJP
AU  - Grozeva D
AU  - Guerreiro R
AU  - Grünblatt E
AU  - Hardy J
AU  - Riedel-Heller SG
AU  - Hiltunen M
AU  - Holmes C
AU  - Hort J
AU  - Hummerich H
AU  - Ikram MA
AU  - Ikram MK
AU  - Ingelsson M
AU  - Jansen IE
AU  - Kawalia A
AU  - Kraaij R
AU  - Kehoe PG
AU  - Lathrop M
AU  - Lacour M
AU  - Lemstra AW
AU  - Lleó A
AU  - Luckcuck L
AU  - Mannens MMAM
AU  - Marshall R
AU  - Masullo C
AU  - Mead S
AU  - Mecocci P
AU  - de Mendonça A
AU  - Meggy A
AU  - Mehrabian S
AU  - Mol MO
AU  - Morgan K
AU  - Morin A
AU  - Nacmias B
AU  - Norsworthy PJ
AU  - Olaso R
AU  - Pasquier F
AU  - Pastor P
AU  - Piras F
AU  - Popp J
AU  - Ramirez A
AU  - Raybould R
AU  - Redon R
AU  - Reinders MJT
AU  - Rivadeneira F
AU  - van Rooij JGJ
AU  - Ryan NS
AU  - Saad S
AU  - Sanchez-Juan P
AU  - Scarmeas N
AU  - Scheltens P
AU  - Schott JM
AU  - Seripa D
AU  - Sie D
AU  - Sims R
AU  - Sistermans EA
AU  - Sorbi S
AU  - Sleegers K
AU  - van Spaendonk R
AU  - van Swieten JC
AU  - Tesi N
AU  - Tijms BM
AU  - Tsolaki M
AU  - Uitterlinden AG
AU  - Vijverberg J
AU  - Visser PJ
AU  - Wagner M
AU  - Williams J
AU  - Zarea A
AU  - EADB Consortium
AU  - Génin E
AU  - Holstege H
AU  - Gudbjartsson DF
AU  - Wallon D
AU  - Lecourtois M
AU  - Fernandez MV
AU  - Stefansson H
AU  - Jacquemont S
AU  - Lambert JC
AU  - van der Lee SJ
AU  - Charbonnier C
AU  - Nicolas G
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.07.013
UR  - https://doi.org/10.1016/j.ajhg.2026.07.013
ER  -

APA

O, Q., C, S., K, C., A, N., J, G., G, H., B, G., M, H., GB, W., I, D. R., A, R., S, F., L, M., AC, R., S, R., S, A., N, A., P, A., O, B., C, B., C, B., P, B., F, B., J, B., J, C., A, D., JF, D., S, D., JF, D., N, D., O, D., CM, V. D., J, F., NC, F., R, F., D, G., R, G., V, G., JJP, G., D, G., R, G., E, G., J, H., SG, R., M, H., C, H., J, H., H, H., MA, I., MK, I., M, I., IE, J., A, K., R, K., PG, K., M, L., M, L., AW, L., A, L., L, L., MMAM, M., R, M., C, M., S, M., P, M., A, D. M., A, M., S, M., MO, M., K, M., A, M., B, N., PJ, N., R, O., F, P., P, P., F, P., J, P., A, R., R, R., R, R., MJT, R., F, R., JGJ, V. R., NS, R., S, S., P, S., N, S., P, S., JM, S., D, S., D, S., R, S., EA, S., S, S., K, S., R, V. S., JC, V. S., N, T., BM, T., M, T., AG, U., J, V., PJ, V., M, W., J, W., A, Z., Consortium, E., E, G., H, H., DF, G., D, W., M, L., MV, F., H, S., S, J., JC, L., SJ, V. D. L., C, C., & G, N. (2026). Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.07.013

Source records

pubmed · retrieved 2026-09-26T03:26:47.972Z