An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

Molly Godfrey, Michael A. Levy, Christopher Campbell, Leigh Demain, Sarah Jenkinson, Sarah Hilton, Berta Almoguera, Meena Balasubramanian, Emilia K. Bijlsma, Fiona Blanco-Kelly, Emma M. M. Burkitt Wright, Gerarda Cappuccio, Kate E. Chandler, Koen Devriendt, Aranzazu Diaz de Bustamante, Maria K. Haanpää, Carolin Hörnig, Elizabeth A. Jones, Sinem Kocagil, Hannele Koillinen, Dhanya Lakshmi Narayanan, Emanuela Leonardi, Rajesh Madhu, Purvi Majethia, Alessandra Murgia, Elisabeth Rosser, Markus Schuelke, Anju Shukla, Emma Soengas-Gonda, Sarah Stewart, Yves Sznajer, Saoud Tahsin Swafiri, Maria Margarida Venancio, Renzo Guerrini, Martino Montomoli, Annalisa Vetro, Thomas Wright, David Gokhale, Bekim Sadikovic, Sofia Douzgou Houge, Siddharth Banka

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DOI: 10.1038/s41431-026-02209-4
Published: 2026-08-10
Container: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-026-02209-4,
  title = {An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants},
  author = {Molly Godfrey and Michael A. Levy and Christopher Campbell and Leigh Demain and Sarah Jenkinson and Sarah Hilton and Berta Almoguera and Meena Balasubramanian and Emilia K. Bijlsma and Fiona Blanco-Kelly and Emma M. M. Burkitt Wright and Gerarda Cappuccio and Kate E. Chandler and Koen Devriendt and Aranzazu Diaz de Bustamante and Maria K. Haanpää and Carolin Hörnig and Elizabeth A. Jones and Sinem Kocagil and Hannele Koillinen and Dhanya Lakshmi Narayanan and Emanuela Leonardi and Rajesh Madhu and Purvi Majethia and Alessandra Murgia and Elisabeth Rosser and Markus Schuelke and Anju Shukla and Emma Soengas-Gonda and Sarah Stewart and Yves Sznajer and Saoud Tahsin Swafiri and Maria Margarida Venancio and Renzo Guerrini and Martino Montomoli and Annalisa Vetro and Thomas Wright and David Gokhale and Bekim Sadikovic and Sofia Douzgou Houge and Siddharth Banka},
  year = {2026},
  journal = {European Journal of Human Genetics},
  doi = {10.1038/s41431-026-02209-4},
  url = {https://doi.org/10.1038/s41431-026-02209-4}
}

RIS

TY  - JOUR
TI  - An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants
AU  - Molly Godfrey
AU  - Michael A. Levy
AU  - Christopher Campbell
AU  - Leigh Demain
AU  - Sarah Jenkinson
AU  - Sarah Hilton
AU  - Berta Almoguera
AU  - Meena Balasubramanian
AU  - Emilia K. Bijlsma
AU  - Fiona Blanco-Kelly
AU  - Emma M. M. Burkitt Wright
AU  - Gerarda Cappuccio
AU  - Kate E. Chandler
AU  - Koen Devriendt
AU  - Aranzazu Diaz de Bustamante
AU  - Maria K. Haanpää
AU  - Carolin Hörnig
AU  - Elizabeth A. Jones
AU  - Sinem Kocagil
AU  - Hannele Koillinen
AU  - Dhanya Lakshmi Narayanan
AU  - Emanuela Leonardi
AU  - Rajesh Madhu
AU  - Purvi Majethia
AU  - Alessandra Murgia
AU  - Elisabeth Rosser
AU  - Markus Schuelke
AU  - Anju Shukla
AU  - Emma Soengas-Gonda
AU  - Sarah Stewart
AU  - Yves Sznajer
AU  - Saoud Tahsin Swafiri
AU  - Maria Margarida Venancio
AU  - Renzo Guerrini
AU  - Martino Montomoli
AU  - Annalisa Vetro
AU  - Thomas Wright
AU  - David Gokhale
AU  - Bekim Sadikovic
AU  - Sofia Douzgou Houge
AU  - Siddharth Banka
PY  - 2026
JO  - European Journal of Human Genetics
DO  - 10.1038/s41431-026-02209-4
UR  - https://doi.org/10.1038/s41431-026-02209-4
ER  -

APA

Godfrey, M., Levy, M. A., Campbell, C., Demain, L., Jenkinson, S., Hilton, S., Almoguera, B., Balasubramanian, M., Bijlsma, E. K., Blanco-Kelly, F., Wright, E. M. M. B., Cappuccio, G., Chandler, K. E., Devriendt, K., Bustamante, A. D. D., Haanpää, M. K., Hörnig, C., Jones, E. A., Kocagil, S., Koillinen, H., Narayanan, D. L., Leonardi, E., Madhu, R., Majethia, P., Murgia, A., Rosser, E., Schuelke, M., Shukla, A., Soengas-Gonda, E., Stewart, S., Sznajer, Y., Swafiri, S. T., Venancio, M. M., Guerrini, R., Montomoli, M., Vetro, A., Wright, T., Gokhale, D., Sadikovic, B., Houge, S. D., & Banka, S. (2026). An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02209-4

Source records

crossref · retrieved 2026-09-26T05:07:38.967Z