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Recent publications published by researchers at the MRC WIMM.

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

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

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal article

Babbs C. et al, (2020), J Med Genet, 57, 414 - 421

Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.

Journal article

Dupré S. et al, (2020), J Craniofac Surg, 31, e362 - e368

amplimap: a versatile tool to process and analyze targeted NGS data.

Journal article

Koelling N. et al, (2020), Bioinformatics, 36

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Journal article

Schwerd T. et al, (2020), Bone Res, 8

amplimap: a versatile tool to process and analyze targeted NGS data.

Journal article

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

Enlarged Parietal Foramina

Journal article

Mavrogiannis LA. and Wilkie AOM., (2019)

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Journal article

Chatron N. et al, (2019), Hum Mutat, 40, 1993 - 2000

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

How to detect mobile retrocopies during routine genetic testing and manage pitfalls

Conference paper

Chatron N. et al, (2019), MOLECULAR CYTOGENETICS, 12

Assessing the landscape of selfish de novo mutations in human testes

Conference paper

Maher GJ. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 825 - 825

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