Steve D M Brown

Author PubWeight™ 94.20‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nat Genet 2005 3.39
2 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
3 Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007 3.06
4 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
5 Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium. Dis Model Mech 2012 2.73
6 EuroPhenome: a repository for high-throughput mouse phenotyping data. Nucleic Acids Res 2009 2.72
7 Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genet 2011 2.34
8 Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits. Curr Biol 2008 2.27
9 The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res 2013 2.20
10 A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biol 2013 2.04
11 A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome 2004 1.82
12 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet 2005 1.81
13 A gene-driven approach to the identification of ENU mutants in the mouse. Nat Genet 2002 1.76
14 Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study. Physiol Genomics 2008 1.76
15 Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources. Mamm Genome 2007 1.75
16 Genetic analysis of the mouse brain proteome. Nat Genet 2002 1.73
17 Accessing data from the International Mouse Phenotyping Consortium: state of the art and future plans. Mamm Genome 2012 1.63
18 ENU mutagenesis, a way forward to understand gene function. Annu Rev Genomics Hum Genet 2008 1.59
19 Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 2002 1.41
20 A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment. Nat Protoc 2010 1.36
21 Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol 2002 1.31
22 Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet 2004 1.30
23 A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. J Neurosci 2003 1.29
24 Whirlin complexes with p55 at the stereocilia tip during hair cell development. Proc Natl Acad Sci U S A 2006 1.26
25 Novel phenotypes identified by plasma biochemical screening in the mouse. Mamm Genome 2002 1.22
26 PRIME importance of pathology expertise. Nat Biotechnol 2009 1.19
27 Regulatory variation at glypican-3 underlies a major growth QTL in mice. PLoS Biol 2005 1.18
28 Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. PLoS Genet 2013 1.14
29 Rodent models of genetic disease. Curr Opin Genet Dev 2003 1.14
30 Gene-environment interactions differentially affect mouse strain behavioral parameters. Mamm Genome 2006 1.14
31 A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse. Hum Mol Genet 2006 1.13
32 Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse. Genome Res 2004 1.12
33 Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media. PLoS Genet 2006 1.11
34 The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media. J Assoc Res Otolaryngol 2003 1.08
35 Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages. Lab Anim 2010 1.07
36 Association of the FBXO11 gene with chronic otitis media with effusion and recurrent otitis media: the Minnesota COME/ROM Family Study. Arch Otolaryngol Head Neck Surg 2006 1.07
37 Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A 2005 1.07
38 ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis. Mamm Genome 2002 1.03
39 Dyneins, autophagy, aggregation and neurodegeneration. Autophagy 2005 1.01
40 HIF-VEGF pathways are critical for chronic otitis media in Junbo and Jeff mouse mutants. PLoS Genet 2011 0.99
41 An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. Physiol Genomics 2007 0.99
42 Unraveling the genetics of otitis media: from mouse to human and back again. Mamm Genome 2010 0.98
43 Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2/pH sensitivity. J Biol Chem 2010 0.96
44 Mouse models as a tool to unravel the genetic basis for human otitis media. Brain Res 2006 0.95
45 Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia. PLoS One 2010 0.94
46 Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition. Nat Commun 2013 0.94
47 A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. J Bone Miner Res 2012 0.94
48 High-throughput mouse phenotyping. Methods 2010 0.94
49 Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. J Bone Miner Res 2007 0.91
50 A major locus conferring susceptibility to infection by Streptococcus pneumoniae in mice. Mamm Genome 2003 0.91
51 The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon. J Neurocytol 2003 0.91
52 Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging. J Bone Miner Res 2012 0.88
53 The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. Hum Mol Genet 2010 0.88
54 A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil. Eur J Neurosci 2002 0.87
55 IGF-1 receptor antagonism inhibits autophagy. Hum Mol Genet 2013 0.87
56 EVI1 acts as an inducible negative-feedback regulator of NF-κB by inhibiting p65 acetylation. J Immunol 2012 0.86
57 α-Synuclein levels modulate Huntington's disease in mice. Hum Mol Genet 2011 0.86
58 Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease. Hum Mol Genet 2013 0.86
59 Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One 2013 0.85
60 Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice. Mamm Genome 2010 0.83
61 Protein 4.1 expression in the developing hair cells of the mouse inner ear. Brain Res 2009 0.82
62 MouseBook: an integrated portal of mouse resources. Nucleic Acids Res 2009 0.82
63 α-Synuclein levels affect autophagosome numbers in vivo and modulate Huntington disease pathology. Autophagy 2012 0.81
64 Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci 2002 0.80
65 All systems GO for understanding mouse gene function. J Biol 2004 0.80
66 An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess. Endocrinology 2013 0.80
67 Molecular phenotyping of the mouse ky mutant reveals UCP1 upregulation at the neuromuscular junctions of dystrophic soleus muscle. Neuromuscul Disord 2004 0.79
68 Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica 2004 0.79
69 Focusing on the genetics of hearing: you ain't heard nothin' yet. Genome Biol 2002 0.79
70 A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. PLoS One 2012 0.78
71 Myringotomy in the Junbo mouse model of chronic otitis media alleviates inflammation and cellular hypoxia. Laryngoscope 2014 0.78
72 A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. PLoS One 2012 0.78
73 Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media. Mamm Genome 2013 0.76
74 Three novel pigmentation mutants generated by genome-wide random ENU mutagenesis in the mouse. Comp Funct Genomics 2004 0.75
75 Foreword for special issue: mouse models for hearing research. Brain Res 2009 0.75