Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Adult and Author is Zaidi, Samir  [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).
Choate, K. A. et al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).
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).