Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat, Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll, Natalie Canham, Ajoy Sarkar, Yuri A. Zarate, Bert Callewaert, Ewelina Bukowska-Olech, Aleksander Jamsheer, Andreas Zankl, Marjolaine Willems, Laura Duncan, Bertrand Isidor, Benjamin Cogne, Odile Boute, Clémence Vanlerberghe, Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard, Jeanne Amiel, Angela E. Lin, Christopher T. Gordon, Dan Doherty, Peter M. Krawitz, Rosanna Weksberg, Tzung-Chien Hsieh, Brian H.Y. Chung

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DOI: 10.1016/j.ebiom.2025.105677
Published: 2025-05
Container: eBioMedicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ebiom.2025.105677,
  title = {Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics},
  author = {Christopher C.Y. Mak and Hannah Klinkhammer and Sanaa Choufani and Nikola Reko and Angela K. Christman and Elise Pisan and Martin M.C. Chui and Mianne Lee and Fiona Leduc and Jennifer C. Dempsey and Pedro A. Sanchez-Lara and Hannah M. Bombei and John A. Bernat and Laurence Faivre and Frederic Tran Mau-Them and Irene Valenzuela Palafoll and Natalie Canham and Ajoy Sarkar and Yuri A. Zarate and Bert Callewaert and Ewelina Bukowska-Olech and Aleksander Jamsheer and Andreas Zankl and Marjolaine Willems and Laura Duncan and Bertrand Isidor and Benjamin Cogne and Odile Boute and Clémence Vanlerberghe and Alice Goldenberg and Elliot Stolerman and Karen J. Low and Vianney Gilard and Jeanne Amiel and Angela E. Lin and Christopher T. Gordon and Dan Doherty and Peter M. Krawitz and Rosanna Weksberg and Tzung-Chien Hsieh and Brian H.Y. Chung},
  year = {2025},
  journal = {eBioMedicine},
  doi = {10.1016/j.ebiom.2025.105677},
  url = {https://doi.org/10.1016/j.ebiom.2025.105677}
}

RIS

TY  - JOUR
TI  - Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
AU  - Christopher C.Y. Mak
AU  - Hannah Klinkhammer
AU  - Sanaa Choufani
AU  - Nikola Reko
AU  - Angela K. Christman
AU  - Elise Pisan
AU  - Martin M.C. Chui
AU  - Mianne Lee
AU  - Fiona Leduc
AU  - Jennifer C. Dempsey
AU  - Pedro A. Sanchez-Lara
AU  - Hannah M. Bombei
AU  - John A. Bernat
AU  - Laurence Faivre
AU  - Frederic Tran Mau-Them
AU  - Irene Valenzuela Palafoll
AU  - Natalie Canham
AU  - Ajoy Sarkar
AU  - Yuri A. Zarate
AU  - Bert Callewaert
AU  - Ewelina Bukowska-Olech
AU  - Aleksander Jamsheer
AU  - Andreas Zankl
AU  - Marjolaine Willems
AU  - Laura Duncan
AU  - Bertrand Isidor
AU  - Benjamin Cogne
AU  - Odile Boute
AU  - Clémence Vanlerberghe
AU  - Alice Goldenberg
AU  - Elliot Stolerman
AU  - Karen J. Low
AU  - Vianney Gilard
AU  - Jeanne Amiel
AU  - Angela E. Lin
AU  - Christopher T. Gordon
AU  - Dan Doherty
AU  - Peter M. Krawitz
AU  - Rosanna Weksberg
AU  - Tzung-Chien Hsieh
AU  - Brian H.Y. Chung
PY  - 2025
JO  - eBioMedicine
DO  - 10.1016/j.ebiom.2025.105677
UR  - https://doi.org/10.1016/j.ebiom.2025.105677
ER  -

APA

Mak, C. C., Klinkhammer, H., Choufani, S., Reko, N., Christman, A. K., Pisan, E., Chui, M. M., Lee, M., Leduc, F., Dempsey, J. C., Sanchez-Lara, P. A., Bombei, H. M., Bernat, J. A., Faivre, L., Mau-Them, F. T., Palafoll, I. V., Canham, N., Sarkar, A., Zarate, Y. A., Callewaert, B., Bukowska-Olech, E., Jamsheer, A., Zankl, A., Willems, M., Duncan, L., Isidor, B., Cogne, B., Boute, O., Vanlerberghe, C., Goldenberg, A., Stolerman, E., Low, K. J., Gilard, V., Amiel, J., Lin, A. E., Gordon, C. T., Doherty, D., Krawitz, P. M., Weksberg, R., Hsieh, T., & Chung, B. H. (2025). Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics. eBioMedicine. https://doi.org/10.1016/j.ebiom.2025.105677

Source records

crossref · retrieved 2026-09-25T17:07:41.336Z