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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

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

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

Journal article

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

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

Journal article

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

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

Journal article

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

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

Conference paper

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

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