Publications

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Author Title [ Year(Desc)]
Filters: Author is Timberlake, Andrew T  [Clear All Filters]
2016
Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare and common alleles. Elife 5, (2016).
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).
2018
Timberlake, A. T. et al. Co-occurrence of frameshift mutations in and in a child with complex craniosynostosis. Hum Genome Var 5, 14 (2018).
2019
Timberlake, A. T. et al. Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A 116, 15116-15121 (2019).
2020
Jin, S. Chih et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (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).