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Recent publications published by researchers at the MRC WIMM.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

CSynth: An Interactive Modelling and Visualisation Tool for 3D Chromatin Structure.

Journal article

Todd S. et al, (2020), Bioinformatics

CaptureCompendium: a comprehensive toolkit for 3C analysis

Journal article

Telenius J. et al, (2020)

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Journal article

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Journal article

Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Journal article

Miller KA. et al, (2017), J Med Genet, 54, 260 - 268

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