PubRank

Karen P Steel

Author PubWeight™ 92.29‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 2009 3.72
2 Sox2 is required for sensory organ development in the mammalian inner ear. Nature 2005 3.58
3 Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell 2013 3.47
4 Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol 2003 3.31
5 An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 2009 3.05
6 Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 2003 2.98
7 Wnt5a functions in planar cell polarity regulation in mice. Dev Biol 2007 2.85
8 Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002 2.31
9 Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome 2012 2.12
10 A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biol 2013 2.04
11 Loss of myosin VI reduces secretion and the size of the Golgi in fibroblasts from Snell's waltzer mice. EMBO J 2003 1.74
12 Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 2005 1.71
13 Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia. Mol Cell Biol 2007 1.66
14 Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. J Physiol 2006 1.65
15 Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 2003 1.59
16 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet 2011 1.54
17 Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci 2004 1.53
18 Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest 2009 1.40
19 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 2008 1.36
20 miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells. Proc Natl Acad Sci U S A 2011 1.32
21 Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol 2002 1.31
22 A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Genesis 2007 1.22
23 The role of sphingosine-1-phosphate transporter Spns2 in immune system function. J Immunol 2012 1.20
24 The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton 2007 1.13
25 Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res 2002 1.13
26 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 2012 1.13
27 MyosinVIIa interacts with Twinfilin-2 at the tips of mechanosensory stereocilia in the inner ear. PLoS One 2009 1.08
28 Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. J Assoc Res Otolaryngol 2003 1.08
29 The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media. J Assoc Res Otolaryngol 2003 1.08
30 The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss. PLoS Genet 2008 1.08
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 The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. Hum Mol Genet 2010 1.07
33 A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm Genome 2004 1.07
34 Two quantitative trait loci affecting progressive hearing loss in 101/H mice. Mamm Genome 2006 1.03
35 Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice. Genome Biol 2011 1.03
36 ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis. Mamm Genome 2002 1.03
37 Study of smell and reproductive organs in a mouse model for CHARGE syndrome. Eur J Hum Genet 2009 1.01
38 Myosin Va is required for normal photoreceptor synaptic activity. J Cell Sci 2004 1.01
39 Ectopic expression of activated notch or SOX2 reveals similar and unique roles in the development of the sensory cell progenitors in the mammalian inner ear. J Neurosci 2013 0.99
40 The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Hum Mol Genet 2011 0.99
41 Mouse models for Usher syndrome 1B. Adv Exp Med Biol 2003 0.97
42 Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res 2003 0.96
43 Presynaptic maturation in auditory hair cells requires a critical period of sensory-independent spiking activity. Proc Natl Acad Sci U S A 2013 0.95
44 Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. Proc Natl Acad Sci U S A 2012 0.92
45 An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome 2004 0.92
46 Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Dev Biol 2009 0.91
47 The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon. J Neurocytol 2003 0.91
48 Mcph1-deficient mice reveal a role for MCPH1 in otitis media. PLoS One 2013 0.90
49 Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4. Int J Audiol 2005 0.90
50 Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3. Genomics 2002 0.90
51 MicroRNAs in mouse development and disease. Semin Cell Dev Biol 2010 0.89
52 Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. Otol Neurotol 2004 0.88
53 A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil. Eur J Neurosci 2002 0.87
54 Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PLoS One 2013 0.85
55 Emx2 and early hair cell development in the mouse inner ear. Dev Biol 2010 0.85
56 Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina 2011 0.85
57 The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss. Int J Audiol 2012 0.83
58 Myosin VI is required for normal retinal function. Exp Eye Res 2005 0.83
59 A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice. Mamm Genome 2011 0.82
60 A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. Eur J Neurosci 2014 0.81
61 Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media. PLoS One 2012 0.80
62 Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Dis Model Mech 2012 0.80
63 Genetics, gene expression and bioinformatics of the pituitary gland. Horm Res 2009 0.80
64 Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. Laryngoscope 2005 0.79
65 Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica 2004 0.79
66 Specific expression of Kcna10, Pxn and Odf2 in the organ of Corti. Gene Expr Patterns 2012 0.78
67 Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice. Hear Res 2002 0.77
68 Use of mouse genetics for studying inner ear development. Curr Top Dev Biol 2003 0.77
69 Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. PLoS One 2013 0.76
70 Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects. PLoS One 2012 0.76
71 A cornucopia of candidates for deafness. Cell 2012 0.75
72 Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mamm Genome 2012 0.75