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Recent publications published by researchers at the MRC WIMM.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Journal article

Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

Working paper

COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium None. et al, (2021)

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

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

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)

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Conference paper

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

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

Journal article

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

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