Karen B. Avraham
Karen B. Avraham
Faculty of Medical and Health Sciences & Sagol School of Neuroscience, Tel Aviv University
Verified email at - Homepage
Cited by
Cited by
Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally
EE Varfolomeev, M Schuchmann, V Luria, N Chiannilkulchai, ...
Immunity 9 (2), 267-276, 1998
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
MH de Angelis, H Flaswinkel, H Fuchs, B Rathkolb, D Soewarto, ...
Nature genetics 25 (4), 444-447, 2000
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
KB Avraham, T Hasson, KP Steel, DM Kingsley, LB Russell, MS Mooseker, ...
Nature genetics 11 (4), 369-375, 1995
Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.
CJ Epstein, KB Avraham, M Lovett, S Smith, O Elroy-Stein, G Rotman, ...
Proceedings of the National Academy of Sciences 84 (22), 8044-8048, 1987
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
O Vahava, R Morell, ED Lynch, S Weiss, ME Kagan, N Ahituv, JE Morrow, ...
Science 279 (5358), 1950-1954, 1998
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …
FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...
Journal of medical genetics 42 (7), 588-594, 2005
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ...
Human mutation 39 (11), 1593-1613, 2018
Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
I Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ...
The American Journal of Human Genetics 73 (6), 1452-1458, 2003
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
T Walsh, H Shahin, T Elkan-Miller, MK Lee, AM Thornton, W Roeb, ...
The American Journal of Human Genetics 87 (1), 90-94, 2010
Role of myosin VI in the differentiation of cochlear hair cells
T Self, T Sobe, NG Copeland, NA Jenkins, KB Avraham, KP Steel
Developmental biology 214 (2), 331-341, 1999
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
T Walsh, V Walsh, S Vreugde, R Hertzano, H Shahin, S Haika, MK Lee, ...
Proceedings of the National Academy of Sciences 99 (11), 7518-7523, 2002
Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase
KB Avraham, M Schickler, D Sapoznikov, R Yarom, Y Groner
Cell 54 (6), 823-829, 1988
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
S Vreugde, A Erven, CJ Kros, W Marcotti, H Fuchs, K Kurima, ER Wilcox, ...
Nature genetics 30 (3), 257-258, 2002
MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
S Melchionda, N Ahituv, L Bisceglia, T Sobe, F Glaser, R Rabionet, ...
The American Journal of Human Genetics 69 (3), 635-640, 2001
Hearing loss: mechanisms revealed by genetics and cell biology
AA Dror, KB Avraham
Annual review of genetics 43, 411-437, 2009
The Notch ligand Jagged1 is required for inner ear sensory development
AE Kiernan, N Ahituv, H Fuchs, R Balling, KB Avraham, KP Steel, ...
Proceedings of the National Academy of Sciences 98 (7), 3873-3878, 2001
Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene
R Hertzano, M Montcouquiol, S Rashi-Elkeles, R Elkon, R Yücel, ...
Human molecular genetics 13 (18), 2143-2153, 2004
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Z Brownstein, LM Friedman, H Shahin, V Oron-Karni, N Kol, AA Rayyan, ...
Genome biology 12, 1-11, 2011
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
T Sobe, S Vreugde, H Shahin, M Berlin, N Davis, M Kanaan, Y Yaron, ...
Human genetics 106, 50-57, 2000
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