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

LaFlamme CW., Clarkson C., Ibañez K., Wang J-Y., Sengupta S., Lord J., Valentine V., Bonkowski ES., Almanza Fuerte EP., Olszewski AR., Ghosh S., Jadhav B., Mack T., Lin J., Gibson SB., van Hagen JM., Alders M., Martin-Geary A., Gu B., Kharbanda M., Banka S., Stuart HM., Webster AR., Hosokawa A., Dashnow H., Bajpai R., Pruett-Miller SM., Chaisson MJP., Miller DE., Whiffin N., Eichler EE., Sisodiya SM., Houlden H., Sharp AJ., Sadikovic B., Valentine M., Sadleir LG., Tucci A., Mefford HC.

DOI

10.1186/s13073-026-01729-4

Type

Journal article

Publisher

Springer Science and Business Media LLC

Publication Date

2026-07-22T00:00:00+00:00

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