Jennifer J. Johnston
National Institutes of Health(US)National Human Genome Research Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Hedgehog Signaling Pathway Studies, Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting
Most-Cited Works
- → Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II(1995)968 cited
- → Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium(2016)573 cited
- → Leptin Expression in Human Mammary Epithelial Cells and Breast Milk(1998)409 cited
- → A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1(2000)326 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency(2011)256 cited