Concepedia

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Charlotte W. Ockeloen, Kriti D. Khandelwal, K Dreesen, Kerstin U. Ludwig, Robert Sullivan, Iris A.L.M. van Rooij, Michelle Thonissen, Steven Swinnen, Milien Phan, Federica Conte,

Genetics in Medicine · 2016 · 81 citations · 16 references

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16

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

, , +16

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise Robinson, Stephan Sanders et al. · Nature Genetics · 2014 · 1.1K citations · Full text

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Wnt Induces LRP6 Signalosomes and Promotes Dishevelled-Dependent LRP6 Phosphorylation

Josipa Bilić, Ya‐Lin Huang, Gary Davidson et al. · Science · 2007 · 934 citations

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Marie‐José H. van den Boogaard, M. Dorland, Frits A. Beemer et al. · Nature Genetics · 2000 · 587 citations

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