Britt Johnson
GenVec(US)GeneMatrix (South Korea)(KR)Advanced Energy Dynamics (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Immunodeficiency and Autoimmune Disorders, Cancer Genomics and Diagnostics, Metabolism and Genetic Disorders
Most-Cited Works
- → Thenob2mouse, a null mutation inCacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses(2006)205 cited
- → Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing(2023)201 cited
- → Multiple sclerosis susceptibility alleles in African Americans(2009)124 cited
- → Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy(2019)120 cited
- → Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells(2015)106 cited
- → Aggregation of multiple sclerosis genetic risk variants in multiple and single case families(2010)96 cited