Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders

Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung-Chien Hsieh, Vivienne P.M. McConnell, Carlos A. Bacino, Lynne M. Bird, Shelin Adam, Lorne Clarke, Jan M. Cobben, André M. Travessa, Laurence Faivre, Stense Farholt, Pernille A. Gregersen, Jos van Hasselt, Nayana Lahiri, Elizabeth E. Palmer, Ruth Sheffer, Jill Clayton-Smith, Yael Wilnai, Charu Deshpande, Jenny E.V. Morton, Emma Clement, Gijs W.E. Santen, Cristina Dias

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DOI: 10.1016/j.gim.2026.102614
Published: 2026-09
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102614,
  title = {Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders},
  author = {Ramy Saad and Clementina Cobolli Gigli and Pleuntje J. van der Sluijs and Jon R. Wilson and Tzung-Chien Hsieh and Vivienne P.M. McConnell and Carlos A. Bacino and Lynne M. Bird and Shelin Adam and Lorne Clarke and Jan M. Cobben and André M. Travessa and Laurence Faivre and Stense Farholt and Pernille A. Gregersen and Jos van Hasselt and Nayana Lahiri and Elizabeth E. Palmer and Ruth Sheffer and Jill Clayton-Smith and Yael Wilnai and Charu Deshpande and Jenny E.V. Morton and Emma Clement and Gijs W.E. Santen and Cristina Dias},
  year = {2026},
  journal = {Genetics in Medicine},
  doi = {10.1016/j.gim.2026.102614},
  url = {https://doi.org/10.1016/j.gim.2026.102614}
}

RIS

TY  - JOUR
TI  - Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders
AU  - Ramy Saad
AU  - Clementina Cobolli Gigli
AU  - Pleuntje J. van der Sluijs
AU  - Jon R. Wilson
AU  - Tzung-Chien Hsieh
AU  - Vivienne P.M. McConnell
AU  - Carlos A. Bacino
AU  - Lynne M. Bird
AU  - Shelin Adam
AU  - Lorne Clarke
AU  - Jan M. Cobben
AU  - André M. Travessa
AU  - Laurence Faivre
AU  - Stense Farholt
AU  - Pernille A. Gregersen
AU  - Jos van Hasselt
AU  - Nayana Lahiri
AU  - Elizabeth E. Palmer
AU  - Ruth Sheffer
AU  - Jill Clayton-Smith
AU  - Yael Wilnai
AU  - Charu Deshpande
AU  - Jenny E.V. Morton
AU  - Emma Clement
AU  - Gijs W.E. Santen
AU  - Cristina Dias
PY  - 2026
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2026.102614
UR  - https://doi.org/10.1016/j.gim.2026.102614
ER  -

APA

Saad, R., Gigli, C. C., Sluijs, P. J. V. D., Wilson, J. R., Hsieh, T., McConnell, V. P., Bacino, C. A., Bird, L. M., Adam, S., Clarke, L., Cobben, J. M., Travessa, A. M., Faivre, L., Farholt, S., Gregersen, P. A., Hasselt, J. V., Lahiri, N., Palmer, E. E., Sheffer, R., Clayton-Smith, J., Wilnai, Y., Deshpande, C., Morton, J. E., Clement, E., Santen, G. W., & Dias, C. (2026). Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders. Genetics in Medicine. https://doi.org/10.1016/j.gim.2026.102614

Source records

crossref · retrieved 2026-09-25T11:15:01.206Z