Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama Alabdi, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Muneera J. Alshammari, Stylianos E. Antonarakis, Donald Basel, Kevin Cassinari, Laurana de Polli Cellin, Amanda R. Clause, Alexander Augusto de Lima Jorge, Andréa de Castro Leal, Stephan C. Collins, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Parul Jayakar, Arif O. Khan, Kohji Kato, Regina Kubica, Gholson J. Lyon, Elaine Marchi, Julie McCarrier, Lara K. Kimmig, Seiji Mizuno, Gael Nicolas, Yosuke Nishio, Tomoo Ogi, Juan Pié, Jordyn Prell, Beatriz Puisac, Feliciano J. Ramos, Emmanuelle Ranza, Claire Redin, Eric Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Sara H. Eltahir, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin S. Wendt, Frank J. Kaiser

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DOI: 10.1038/s41467-026-71177-6
Published: 2026-03-30
Container: Nature Communications
Publisher: Springer Science and Business Media LLC
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Cite this work

BibTeX

@article{allodium:10.1038/s41467-026-71177-6,
  title = {Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype},
  author = {Ilaria Parenti and Alina Hesters and Marta Gil-Salvador and Laura Duffy and Deniz Kanber and Jasmin Beygo and Jennifer Kerkhof and Laura Steenpaß and Elsa Leitão and Julia Woestefeld and Philip M. Boone and Emeline M. Kao and Lama Alabdi and Hesham M. Aldhalaan and Fowzan S. Alkuraya and Muneera J. Alshammari and Stylianos E. Antonarakis and Donald Basel and Kevin Cassinari and Laurana de Polli Cellin and Amanda R. Clause and Alexander Augusto de Lima Jorge and Andréa de Castro Leal and Stephan C. Collins and Benjamin Durand and Juliane Eckhold and Mais O. Hashem and Parul Jayakar and Arif O. Khan and Kohji Kato and Regina Kubica and Gholson J. Lyon and Elaine Marchi and Julie McCarrier and Lara K. Kimmig and Seiji Mizuno and Gael Nicolas and Yosuke Nishio and Tomoo Ogi and Juan Pié and Jordyn Prell and Beatriz Puisac and Feliciano J. Ramos and Emmanuelle Ranza and Claire Redin and Eric Rush and Shinji Saitoh and Hanan E. Shamseldin and Susan Starling and Esteban Astiazaran-Symonds and Sara H. Eltahir and Alma Kuechler and Bekim Sadikovic and Binnaz Yalcin and Kerstin S. Wendt and Frank J. Kaiser},
  year = {2026},
  journal = {Nature Communications},
  doi = {10.1038/s41467-026-71177-6},
  url = {https://doi.org/10.1038/s41467-026-71177-6}
}

RIS

TY  - JOUR
TI  - Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
AU  - Ilaria Parenti
AU  - Alina Hesters
AU  - Marta Gil-Salvador
AU  - Laura Duffy
AU  - Deniz Kanber
AU  - Jasmin Beygo
AU  - Jennifer Kerkhof
AU  - Laura Steenpaß
AU  - Elsa Leitão
AU  - Julia Woestefeld
AU  - Philip M. Boone
AU  - Emeline M. Kao
AU  - Lama Alabdi
AU  - Hesham M. Aldhalaan
AU  - Fowzan S. Alkuraya
AU  - Muneera J. Alshammari
AU  - Stylianos E. Antonarakis
AU  - Donald Basel
AU  - Kevin Cassinari
AU  - Laurana de Polli Cellin
AU  - Amanda R. Clause
AU  - Alexander Augusto de Lima Jorge
AU  - Andréa de Castro Leal
AU  - Stephan C. Collins
AU  - Benjamin Durand
AU  - Juliane Eckhold
AU  - Mais O. Hashem
AU  - Parul Jayakar
AU  - Arif O. Khan
AU  - Kohji Kato
AU  - Regina Kubica
AU  - Gholson J. Lyon
AU  - Elaine Marchi
AU  - Julie McCarrier
AU  - Lara K. Kimmig
AU  - Seiji Mizuno
AU  - Gael Nicolas
AU  - Yosuke Nishio
AU  - Tomoo Ogi
AU  - Juan Pié
AU  - Jordyn Prell
AU  - Beatriz Puisac
AU  - Feliciano J. Ramos
AU  - Emmanuelle Ranza
AU  - Claire Redin
AU  - Eric Rush
AU  - Shinji Saitoh
AU  - Hanan E. Shamseldin
AU  - Susan Starling
AU  - Esteban Astiazaran-Symonds
AU  - Sara H. Eltahir
AU  - Alma Kuechler
AU  - Bekim Sadikovic
AU  - Binnaz Yalcin
AU  - Kerstin S. Wendt
AU  - Frank J. Kaiser
PY  - 2026
JO  - Nature Communications
DO  - 10.1038/s41467-026-71177-6
UR  - https://doi.org/10.1038/s41467-026-71177-6
ER  -

APA

Parenti, I., Hesters, A., Gil-Salvador, M., Duffy, L., Kanber, D., Beygo, J., Kerkhof, J., Steenpaß, L., Leitão, E., Woestefeld, J., Boone, P. M., Kao, E. M., Alabdi, L., Aldhalaan, H. M., Alkuraya, F. S., Alshammari, M. J., Antonarakis, S. E., Basel, D., Cassinari, K., Cellin, L. D. P., Clause, A. R., Jorge, A. A. D. L., Leal, A. D. C., Collins, S. C., Durand, B., Eckhold, J., Hashem, M. O., Jayakar, P., Khan, A. O., Kato, K., Kubica, R., Lyon, G. J., Marchi, E., McCarrier, J., Kimmig, L. K., Mizuno, S., Nicolas, G., Nishio, Y., Ogi, T., Pié, J., Prell, J., Puisac, B., Ramos, F. J., Ranza, E., Redin, C., Rush, E., Saitoh, S., Shamseldin, H. E., Starling, S., Astiazaran-Symonds, E., Eltahir, S. H., Kuechler, A., Sadikovic, B., Yalcin, B., Wendt, K. S., & Kaiser, F. J. (2026). Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype. Nature Communications. https://doi.org/10.1038/s41467-026-71177-6

Source records

crossref · retrieved 2026-09-26T17:16:58.787Z