PubRank

Karen B Avraham

Author PubWeight™ 83.07‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 2010 4.95
2 GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005 2.63
3 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol 2011 2.62
4 Promoting Arab and Israeli cooperation: peacebuilding through health initiatives. Lancet 2005 2.48
5 Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002 2.31
6 Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet 2009 2.30
7 From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A 2002 2.17
8 Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003 1.79
9 Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet 2004 1.73
10 Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet 2009 1.67
11 MicroRNAs are essential for development and function of inner ear hair cells in vertebrates. Proc Natl Acad Sci U S A 2009 1.67
12 Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A 2002 1.65
13 Mouse models to study inner ear development and hereditary hearing loss. Int J Dev Biol 2007 1.65
14 Hearing impairment: a panoply of genes and functions. Neuron 2010 1.55
15 Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003 1.43
16 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 2003 1.38
17 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 2002 1.36
18 CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS Genet 2009 1.34
19 Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet 2010 1.31
20 SPIKE: a database of highly curated human signaling pathways. Nucleic Acids Res 2010 1.23
21 The LINC complex is essential for hearing. J Clin Invest 2013 1.22
22 Hereditary hearing loss: from human mutation to mechanism. Hear Res 2011 1.22
23 Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development. EMBO Rep 2006 1.21
24 Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Dev Biol 2004 1.21
25 Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet 2005 1.20
26 Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 2002 1.17
27 Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear. PLoS One 2011 1.15
28 Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. J Biol Chem 2010 1.08
29 High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol 2012 1.07
30 Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet 2010 1.07
31 A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells. PLoS Genet 2008 1.07
32 A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm Genome 2004 1.07
33 Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics 2006 1.06
34 Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Hum Mol Genet 2003 1.02
35 Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. Eur J Neurosci 2007 1.00
36 Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci 2010 1.00
37 The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Mol Cell Biol 2003 0.99
38 Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet 2010 0.99
39 Deafness genes in Israel: implications for diagnostics in the clinic. Pediatr Res 2009 0.98
40 The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res 2004 0.97
41 A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome 2010 0.96
42 Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity. Biochem Biophys Res Commun 2004 0.96
43 MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data. Nucleic Acids Res 2010 0.96
44 MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness. Mamm Genome 2009 0.93
45 An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome 2004 0.92
46 Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch Otolaryngol Head Neck Surg 2006 0.91
47 Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg 2006 0.91
48 Therapeutics of hearing loss: expectations vs reality. Drug Discov Today 2005 0.91
49 A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum. Arch Otolaryngol Head Neck Surg 2008 0.89
50 Mouse models for human deafness: current tools for new fashions. Trends Mol Med 2002 0.88
51 Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum Mutat 2013 0.86
52 A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet 2002 0.85
53 Connexins in hearing loss: a comprehensive overview. J Basic Clin Physiol Pharmacol 2005 0.85
54 microRNAs: the art of silencing in the ear. EMBO Mol Med 2012 0.84
55 Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of mammalian central auditory nuclei. PLoS One 2012 0.82
56 The structural context of disease-causing mutations in gap junctions. J Biol Chem 2006 0.82
57 Time-dependent gene expression analysis of the developing superior olivary complex. J Biol Chem 2013 0.81
58 Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety. Behav Brain Res 2009 0.81
59 The clinical presentation of DFNA15/POU4F3. Adv Otorhinolaryngol 2002 0.78
60 Progressive vestibular mutation leads to elevated anxiety. Brain Res 2010 0.78
61 Genetics of deafness: recent advances and clinical implications. J Basic Clin Physiol Pharmacol 2002 0.78
62 Integration of human and mouse genetics reveals pendrin function in hearing and deafness. Cell Physiol Biochem 2011 0.77
63 The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry. Genet Test Mol Biomarkers 2013 0.77
64 A "Tric" to tighten cell-cell junctions in the cochlea for hearing. J Clin Invest 2013 0.77
65 Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. Cell Physiol Biochem 2011 0.77
66 Rescue from hearing loss in Usher's syndrome. N Engl J Med 2013 0.77
67 Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness. Mamm Genome 2014 0.76
68 Single cell analysis of the inner ear sensory organs. Int J Dev Biol 2017 0.75
69 Israel Society for Auditory Research (ISAR): 2013 Annual Scientific Conference. J Basic Clin Physiol Pharmacol 2013 0.75
70 Israel Society for Auditory Research (ISAR): 2014 annual scientific conference. J Basic Clin Physiol Pharmacol 2014 0.75
71 Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness. J Basic Clin Physiol Pharmacol 2014 0.75
72 Advances in genetic diagnostics for hereditary hearing loss. J Basic Clin Physiol Pharmacol 2013 0.75