DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Sabbagh Q, Cenni C, Haghshenas S, Alessandri JL, Bak M, Bayat A, Barat-Houari M, Brusco A, Busa T, Calaya A, Calvert P, Cormier-Daire V, Coubes C, Duffourd Y, Ferrero GB, Guimier A, Haye D, Hjortshøj TD, Lambert L, Larsen KB, Lauzon-Young C, Lesca G, Chatron N, Levy MA, Lopergolo D, Margot H, McConkey H, Monin P, Morel G, Naudion S, Nizon M, Odent S, Pinson L, Pons L, Putoux A, Rio M, Rossi M, Rouaux L, Rouxel F, Ruiz-Pallares N, Sanchez E, Pagano S, Santorelli FM, Sauvestre C, Schymick JC, Siu VM, Spodenkiewicz M, Tedder M, Tharreau M, Mau-Them FT, Tümer Z, Valenzuela I, Van Gils J, Willems M, Kirchhoff A, Krawitz P, Kerkhof J, Schuurs-Hoeijmakers JHM, Sadikovic B, Geneviève D

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DOI: 10.1038/s41431-026-02083-0
Published: 2026 Jun
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-026-02083-0,
  title = {DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.},
  author = {Sabbagh Q and Cenni C and Haghshenas S and Alessandri JL and Bak M and Bayat A and Barat-Houari M and Brusco A and Busa T and Calaya A and Calvert P and Cormier-Daire V and Coubes C and Duffourd Y and Ferrero GB and Guimier A and Haye D and Hjortshøj TD and Lambert L and Larsen KB and Lauzon-Young C and Lesca G and Chatron N and Levy MA and Lopergolo D and Margot H and McConkey H and Monin P and Morel G and Naudion S and Nizon M and Odent S and Pinson L and Pons L and Putoux A and Rio M and Rossi M and Rouaux L and Rouxel F and Ruiz-Pallares N and Sanchez E and Pagano S and Santorelli FM and Sauvestre C and Schymick JC and Siu VM and Spodenkiewicz M and Tedder M and Tharreau M and Mau-Them FT and Tümer Z and Valenzuela I and Van Gils J and Willems M and Kirchhoff A and Krawitz P and Kerkhof J and Schuurs-Hoeijmakers JHM and Sadikovic B and Geneviève D},
  year = {2026},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-026-02083-0},
  url = {https://doi.org/10.1038/s41431-026-02083-0}
}

RIS

TY  - JOUR
TI  - DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
AU  - Sabbagh Q
AU  - Cenni C
AU  - Haghshenas S
AU  - Alessandri JL
AU  - Bak M
AU  - Bayat A
AU  - Barat-Houari M
AU  - Brusco A
AU  - Busa T
AU  - Calaya A
AU  - Calvert P
AU  - Cormier-Daire V
AU  - Coubes C
AU  - Duffourd Y
AU  - Ferrero GB
AU  - Guimier A
AU  - Haye D
AU  - Hjortshøj TD
AU  - Lambert L
AU  - Larsen KB
AU  - Lauzon-Young C
AU  - Lesca G
AU  - Chatron N
AU  - Levy MA
AU  - Lopergolo D
AU  - Margot H
AU  - McConkey H
AU  - Monin P
AU  - Morel G
AU  - Naudion S
AU  - Nizon M
AU  - Odent S
AU  - Pinson L
AU  - Pons L
AU  - Putoux A
AU  - Rio M
AU  - Rossi M
AU  - Rouaux L
AU  - Rouxel F
AU  - Ruiz-Pallares N
AU  - Sanchez E
AU  - Pagano S
AU  - Santorelli FM
AU  - Sauvestre C
AU  - Schymick JC
AU  - Siu VM
AU  - Spodenkiewicz M
AU  - Tedder M
AU  - Tharreau M
AU  - Mau-Them FT
AU  - Tümer Z
AU  - Valenzuela I
AU  - Van Gils J
AU  - Willems M
AU  - Kirchhoff A
AU  - Krawitz P
AU  - Kerkhof J
AU  - Schuurs-Hoeijmakers JHM
AU  - Sadikovic B
AU  - Geneviève D
PY  - 2026
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-026-02083-0
UR  - https://doi.org/10.1038/s41431-026-02083-0
ER  -

APA

Q, S., C, C., S, H., JL, A., M, B., A, B., M, B., A, B., T, B., A, C., P, C., V, C., C, C., Y, D., GB, F., A, G., D, H., TD, H., L, L., KB, L., C, L., G, L., N, C., MA, L., D, L., H, M., H, M., P, M., G, M., S, N., M, N., S, O., L, P., L, P., A, P., M, R., M, R., L, R., F, R., N, R., E, S., S, P., FM, S., C, S., JC, S., VM, S., M, S., M, T., M, T., FT, M., Z, T., I, V., J, V. G., M, W., A, K., P, K., J, K., JHM, S., B, S., & D, G. (2026). DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02083-0

Source records

pubmed · retrieved 2026-09-25T17:56:39.618Z