Publications

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Author Title [ Year(Desc)]
Filters: Author is Smith, Joshua D and Keyword is DNA Mutational Analysis  [Clear All Filters]
2014
Smith, J. D. et al. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet 95, 235-40 (2014).
Makaryan, V. et al. TCIRG1-associated congenital neutropenia. Hum Mutat 35, 824-7 (2014).
2015
Ansar, M. et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).