Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Craniosynostoses  [Clear All Filters]
2020
Kerner, G. et al. A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
2017
Timberlake, A. T. et al. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A 114, E7341-E7347 (2017).
2016
Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare and common alleles. Elife 5, (2016).
2012
Doyle, A. J. et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44, 1249-54 (2012).