Janda Jenkins

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity et al. · Genetics in Medicine · 2022 · 88 citations · Full text

Clinical genome sequencing in an unbiased pediatric cohort

Isabelle Thiffault, Emily Farrow, Lee Zellmer et al. · Genetics in Medicine · 2018 · 53 citations · Full text

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Isabelle Thiffault, Carol Saunders, Janda Jenkins et al. · BMC Medical Genetics · 2015 · 36 citations · Full text

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

Victoria E. Rael, Julian A. Yano, John Huizar et al. · The Journal of Experimental Medicine · 2024 · 32 citations · Full text

Immunology, Immune Regulation, Innate Immunity +17

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Ewen W. Sommerville, Xiao-Long Zhou, Monika Oláhová et al. · Human Molecular Genetics · 2018 · 26 citations · Full text