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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

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

Journal article

TWIGG S. et al, (2020), Bone Research

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

Journal article

Koelling N. et al, (2020), Bioinformatics

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal article

Babbs C. et al, (2020), J Med Genet

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

Journal article

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

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

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome

Conference paper

Vasileiou G. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 805 - 806

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