Jennifer J. Johnston

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio et al. · The American Journal of Human Genetics · 2012 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

Jennifer J. Johnston, Richard I. Kelley, Annette Feigenbaum et al. · The American Journal of Human Genetics · 1997 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Flavobacterium johnsoniae GldK, GldL, GldM, and SprA Are Required for Secretion of the Cell Surface Gliding Motility Adhesins SprB and RemA

Abhishek Shrivastava, Jennifer J. Johnston, Jessica M. van Baaren et al. · Journal of Bacteriology · 2013 · 134 citations · Full text

Life Sciences, Microbiology, Molecular Biology +17