PubRank

Hannie Kremer

Author PubWeight™ 86.37‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009 3.72
2 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2009 2.22
3 A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 2007 2.11
4 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
5 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet 2006 1.94
6 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004 1.88
7 Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 2008 1.78
8 Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study. J Assoc Res Otolaryngol 2008 1.73
9 Development of a genotyping microarray for Usher syndrome. J Med Genet 2006 1.63
10 Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet 2005 1.54
11 The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet 2007 1.52
12 GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet 2008 1.49
13 Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 2011 1.40
14 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010 1.38
15 Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun 2011 1.33
16 Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet 2006 1.31
17 Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 2008 1.24
18 Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet 2010 1.23
19 Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002 1.23
20 SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin Cancer Res 2011 1.22
21 Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet 2012 1.15
22 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat 2004 1.13
23 Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). Otol Neurotol 2005 1.13
24 DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat 2011 1.13
25 Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther 2006 1.12
26 A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol 2003 1.12
27 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet 2010 1.11
28 Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 2008 1.11
29 A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J Assoc Res Otolaryngol 2006 1.09
30 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 2013 1.08
31 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004 1.07
32 Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet 2008 1.07
33 Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. Audiol Neurootol 2010 1.07
34 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 2010 1.07
35 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet 2002 1.05
36 Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 2007 1.03
37 Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. Invest Ophthalmol Vis Sci 2009 1.01
38 Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 2010 1.00
39 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet 2013 1.00
40 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet 2012 0.99
41 A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol 2007 0.99
42 MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A 2007 0.99
43 CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology 2011 0.98
44 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006 0.97
45 Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. Hum Mol Genet 2008 0.97
46 A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet 2012 0.97
47 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol 2011 0.96
48 MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum Mol Genet 2007 0.95
49 Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg 2003 0.95
50 Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol 2005 0.94
51 Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet 2008 0.94
52 The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. Otol Neurotol 2007 0.94
53 Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). Am J Med Genet A 2006 0.92
54 Phenotype description of a novel DFNA9/COCH mutation, I109T. Ann Otol Rhinol Laryngol 2007 0.91
55 Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing. Hum Genet 2010 0.90
56 Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers. Otol Neurotol 2005 0.90
57 Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis 2010 0.90
58 The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. Invest Ophthalmol Vis Sci 2004 0.89
59 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord 2006 0.89
60 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). Otol Neurotol 2004 0.89
61 Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmol Scand 2004 0.88
62 Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochim Biophys Acta 2011 0.85
63 Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. Arch Otolaryngol Head Neck Surg 2008 0.84
64 Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH. Am J Ophthalmol 2007 0.84
65 Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 2005 0.83
66 Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol 2006 0.82
67 Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. Audiol Neurootol 2009 0.82
68 A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Arch Otolaryngol Head Neck Surg 2004 0.80
69 Similar phenotypes caused by mutations in OTOG and OTOGL. Ear Hear 2014 0.80
70 Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. Ann Otol Rhinol Laryngol 2009 0.79
71 The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. Cilia 2012 0.79
72 Cochleovestibular and ocular features in a Dutch DFNA11 family. Otol Neurotol 2006 0.79
73 Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3. Ann Otol Rhinol Laryngol 2009 0.79
74 Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. Ear Hear 2015 0.78
75 Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. Ear Hear 2015 0.78
76 GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res 2005 0.75
77 Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. Ann Otol Rhinol Laryngol 2004 0.75
78 Familial aggregation of pure tone hearing thresholds in an aging European population. Otol Neurotol 2013 0.75
79 Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. Am J Med Genet A 2005 0.75