Publications

Export 4 results:
Author Title [ Year(Desc)]
Filters: Author is Zaidi, Samir and Keyword is Exome  [Clear All Filters]
2013
Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).
2015
Stuart, B. D. et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 47, 512-7 (2015).
2016
Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare and common alleles. Elife 5, (2016).
2017
Jin, S. Chih et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).