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A genome-wide association study implicates BMP7 as a risk factor for nonsyndromic metopic craniosynostosis

Conference paper

Justice CM. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1276 - 1277

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

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

Journal article

Koelling N. et al, (2019), Bioinformatics

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

Germline selection shapes human mitochondrial DNA diversity.

Journal article

Wei W. et al, (2019), Science, 364

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Journal article

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

Enabling global clinical collaborations on identifiable patient data: The Minerva initiative

Journal article

Nellåker C. et al, (2019), Frontiers in Genetics, 10

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Journal article

Maher GJ. et al, (2018), Genome Res, 28, 1779 - 1790

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