Katelin N. Townsend

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 124 citations · Full text

Epileptic Encephalopathy, Neurophysiology, Genetic Disorder +10

Exome sequencing identifies mutations in <i><scp>KIF14</scp></i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Isabel Filges, Ekaterina Nosova, Elisabeth Bruder et al. · Clinical Genetics · 2013 · 105 citations

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Ana S.A. Cohen, Damian Yap, M. E. Suzanne Lewis et al. · Human Mutation · 2015 · 85 citations · Full text

Histone Modifications, Functional Studies, Epigenetic Change +17

Survival of Effector CD8+ T Cells during Influenza Infection Is Dependent on Autophagy

Katrin Schlie, Ashley Westerback, Lindsay DeVorkin et al. · The Journal of Immunology · 2015 · 67 citations

Effector Cd8, Cell Autophagy, Autoimmune Disease +14

The autophagy protein <scp>LC3A</scp> correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer

Jaeline E. Spowart, Katelin N. Townsend, Hassan Huwait et al. · The Journal of Pathology · 2012 · 54 citations