Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders

Christy W. LaFlamme, Chris Clarkson, Kristina Ibañez, Jin-Yuan Wang, Soham Sengupta, Jenny Lord, Virginia Valentine, Emily S. Bonkowski, Edith P. Almanza Fuerte, Athena R. Olszewski, Sourav Ghosh, Bharati Jadhav, Taralynn Mack, Jiadong Lin, Sophia B. Gibson, Johanna M. van Hagen, Mariëlle Alders, Alexandra Martin-Geary, Bida Gu, Mira Kharbanda, Siddharth Banka, Helen M. Stuart, Andrew R. Webster, Akimoto Hosokawa, Harriet Dashnow, Richa Bajpai, Shondra M. Pruett-Miller, Mark J.P. Chaisson, Danny E. Miller, Nicola Whiffin, Evan E. Eichler, Sanjay M. Sisodiya, Henry Houlden, Andrew J. Sharp, Bekim Sadikovic, Marc Valentine, Lynette G. Sadleir, Arianna Tucci, Heather C. Mefford

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DOI: 10.1186/s13073-026-01729-4
Published: 2026-07-22
Container: Genome Medicine
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13073-026-01729-4,
  title = {Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders},
  author = {Christy W. LaFlamme and Chris Clarkson and Kristina Ibañez and Jin-Yuan Wang and Soham Sengupta and Jenny Lord and Virginia Valentine and Emily S. Bonkowski and Edith P. Almanza Fuerte and Athena R. Olszewski and Sourav Ghosh and Bharati Jadhav and Taralynn Mack and Jiadong Lin and Sophia B. Gibson and Johanna M. van Hagen and Mariëlle Alders and Alexandra Martin-Geary and Bida Gu and Mira Kharbanda and Siddharth Banka and Helen M. Stuart and Andrew R. Webster and Akimoto Hosokawa and Harriet Dashnow and Richa Bajpai and Shondra M. Pruett-Miller and Mark J.P. Chaisson and Danny E. Miller and Nicola Whiffin and Evan E. Eichler and Sanjay M. Sisodiya and Henry Houlden and Andrew J. Sharp and Bekim Sadikovic and Marc Valentine and Lynette G. Sadleir and Arianna Tucci and Heather C. Mefford},
  year = {2026},
  journal = {Genome Medicine},
  doi = {10.1186/s13073-026-01729-4},
  url = {https://doi.org/10.1186/s13073-026-01729-4}
}

RIS

TY  - JOUR
TI  - Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
AU  - Christy W. LaFlamme
AU  - Chris Clarkson
AU  - Kristina Ibañez
AU  - Jin-Yuan Wang
AU  - Soham Sengupta
AU  - Jenny Lord
AU  - Virginia Valentine
AU  - Emily S. Bonkowski
AU  - Edith P. Almanza Fuerte
AU  - Athena R. Olszewski
AU  - Sourav Ghosh
AU  - Bharati Jadhav
AU  - Taralynn Mack
AU  - Jiadong Lin
AU  - Sophia B. Gibson
AU  - Johanna M. van Hagen
AU  - Mariëlle Alders
AU  - Alexandra Martin-Geary
AU  - Bida Gu
AU  - Mira Kharbanda
AU  - Siddharth Banka
AU  - Helen M. Stuart
AU  - Andrew R. Webster
AU  - Akimoto Hosokawa
AU  - Harriet Dashnow
AU  - Richa Bajpai
AU  - Shondra M. Pruett-Miller
AU  - Mark J.P. Chaisson
AU  - Danny E. Miller
AU  - Nicola Whiffin
AU  - Evan E. Eichler
AU  - Sanjay M. Sisodiya
AU  - Henry Houlden
AU  - Andrew J. Sharp
AU  - Bekim Sadikovic
AU  - Marc Valentine
AU  - Lynette G. Sadleir
AU  - Arianna Tucci
AU  - Heather C. Mefford
PY  - 2026
JO  - Genome Medicine
DO  - 10.1186/s13073-026-01729-4
UR  - https://doi.org/10.1186/s13073-026-01729-4
ER  -

APA

LaFlamme, C. W., Clarkson, C., Ibañez, K., Wang, J., Sengupta, S., Lord, J., Valentine, V., Bonkowski, E. S., Fuerte, E. P. A., Olszewski, A. R., Ghosh, S., Jadhav, B., Mack, T., Lin, J., Gibson, S. B., Hagen, J. M. V., Alders, M., Martin-Geary, A., Gu, B., Kharbanda, M., Banka, S., Stuart, H. M., Webster, A. R., Hosokawa, A., Dashnow, H., Bajpai, R., Pruett-Miller, S. M., Chaisson, M. J., Miller, D. E., Whiffin, N., Eichler, E. E., Sisodiya, S. M., Houlden, H., Sharp, A. J., Sadikovic, B., Valentine, M., Sadleir, L. G., Tucci, A., & Mefford, H. C. (2026). Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders. Genome Medicine. https://doi.org/10.1186/s13073-026-01729-4

Source records

crossref · retrieved 2026-09-25T14:22:06.631Z