Jennifer J. Johnston

Author

National Human Genome Research Institute

Also Known As

J. J. Johnston, Jennifer J Johnston, Jennifer J. Johnston, Jennifer Johnston, Johnston, Jennifer J.

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health Children's Hospital of Philadelphia Greenwood Genetic Center University of California, Los Angeles

About

Jennifer J. Johnston is an author at National Human Genome Research Institute specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	696
2	Natural Sciences	1	1	132
3	Public Health	1	1	42
4	Cell Biology	1	1	132
5	Cellular Physiology	1	1	132

Jennifer J. Johnston

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, New England Journal of Medicine	2011	872
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Genetics in Medicine Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology	2018	211
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, The American Journal of Human Genetics Somatic VariantMedicineGeneticsHigh-penetrance MutationsPathology	2012	206
Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome Jennifer J. Johnston, Richard I. Kelley, Annette Feigenbaum, The American Journal of Human Genetics	1997	135
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, Journal of Bacteriology Protein SecretionSpra Are RequiredNatural SciencesPhage BiologyPathogenesis	2013	132
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Nature Genetics Mendelian DisorderMethylmalonic AciduriaMedicineGeneticsGenetic Disorder	2011	105
Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance Bianca Russell, Jennifer J. Johnston, Leslie G. Biesecker, American Journal of Medical Genetics Part A	2015	66
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome Jennifer J. Johnston, Isabelle Olivos‐Glander, Joyce Turner, American Journal of Medical Genetics Part A	2003	56
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders Douglas R. Stewart, Alexander Pemov, Jennifer J. Johnston, PLoS ONE Exome SequencingGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2014	42
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism Jennifer J. Johnston, Julie C. Sapp, Cynthia J. Curry, American Journal of Medical Genetics Part A	2013	39

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