Karen B. Avraham

Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally

Eugene Varfolomeev, Marcus Schuchmann, Victor Luria et al. · Immunity · 1998 · 1.2K citations · Full text

Inflammation, Knockout Mouse, Signal Transduction +12

Genome-wide, large-scale production of mutant mice by ENU mutagenesis

Martin Hrabě de Angelis, Heinrich Flaswinkel, Helmut Fuchs et al. · Nature Genetics · 2000 · 675 citations · Full text

Knockout Mouse, Mutant Mice, Genetics +4

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

Karen B. Avraham, Tama Hasson, Karen P. Steel et al. · Nature Genetics · 1995 · 511 citations

Knockout Mouse, Waltzer Deafness Gene, Molecular Physiology +13

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 493 citations · Full text

Genetics, Genetic Epidemiology, Pathology +22