PubRank

Johan T den Dunnen

Author PubWeight™ 192.96‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res 2008 10.10
2 Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007 7.29
3 LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 2011 5.53
4 Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008 5.53
5 Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 2008 4.22
6 Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 2010 4.19
7 LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 2005 2.86
8 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012 2.82
9 Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009 2.67
10 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 2012 2.63
11 High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009 2.59
12 Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol 2013 2.53
13 The value of data. Nat Genet 2011 2.40
14 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005 2.40
15 Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension 2006 2.39
16 Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 2006 2.31
17 Planning the human variome project: the Spain report. Hum Mutat 2009 2.22
18 Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet 2003 2.17
19 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet 2013 2.11
20 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 2008 2.09
21 Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat 2009 2.04
22 Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004 1.94
23 Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet 2006 1.93
24 Recommendations of the 2006 Human Variome Project meeting. Nat Genet 2007 1.90
25 Standardizing mutation nomenclature: why bother? Hum Mutat 2003 1.80
26 Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 2002 1.72
27 Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 2011 1.62
28 High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell 2010 1.56
29 Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002 1.55
30 Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem 2012 1.52
31 Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 2003 1.52
32 Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 2007 1.50
33 Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther 2004 1.46
34 Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res 2003 1.46
35 AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 2006 1.44
36 New methods for next generation sequencing based microRNA expression profiling. BMC Genomics 2010 1.38
37 Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther 2006 1.38
38 Phage display screening without repetitious selection rounds. Anal Biochem 2011 1.36
39 Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics 2008 1.36
40 A common reference for cDNA microarray hybridizations. Nucleic Acids Res 2002 1.35
41 Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012 1.34
42 Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 2010 1.33
43 CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes. BMC Bioinformatics 2008 1.31
44 How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat 2010 1.31
45 Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey. BMC Genomics 2009 1.31
46 Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005 1.30
47 Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat 2011 1.30
48 Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome. BMC Genomics 2009 1.29
49 Leiden Open Variation Database of the MUTYH gene. Hum Mutat 2010 1.28
50 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat 2013 1.27
51 Genome-wide assessment of differential roles for p300 and CBP in transcription regulation. Nucleic Acids Res 2010 1.25
52 Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 2011 1.24
53 Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. Nucleic Acids Res 2012 1.23
54 Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization. Transfusion 2005 1.18
55 Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA. BMC Genomics 2012 1.18
56 The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS One 2012 1.16
57 Guidelines for establishing locus specific databases. Hum Mutat 2011 1.16
58 Novel protein-protein interactions inferred from literature context. PLoS One 2009 1.13
59 Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies. Nucleic Acids Res 2010 1.13
60 Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 2008 1.12
61 Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Cell Biol 2004 1.12
62 An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 2010 1.11
63 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011 1.08
64 Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A 2007 1.08
65 Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation. Biochim Biophys Acta 2006 1.08
66 Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs. Nucleic Acids Res 2004 1.08
67 Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One 2011 1.08
68 Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem 2007 1.07
69 GENETICS. The Human Variome Project. Science 2008 1.07
70 Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014 1.06
71 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet 2010 1.04
72 A study of the SORL1 gene in Alzheimer's disease and cognitive function. J Alzheimers Dis 2009 1.02
73 Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice. Neuromuscul Disord 2002 1.01
74 Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest 2010 1.01
75 Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy. Proteomics 2008 1.00
76 Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat 2012 0.99
77 Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat 2010 0.99
78 Large-scale gene expression analysis of human skeletal myoblast differentiation. Neuromuscul Disord 2004 0.98
79 Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing. Anal Bioanal Chem 2014 0.97
80 Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing. Mol Ecol Resour 2014 0.97
81 Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet 2002 0.97
82 Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data. Nucleic Acids Res 2008 0.96
83 Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 2011 0.96
84 Literature-aided interpretation of gene expression data with the weighted global test. Brief Bioinform 2010 0.96
85 Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol 2007 0.95
86 Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease. BMC Mol Biol 2008 0.95
87 Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet 2015 0.94
88 A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics 2011 0.94
89 Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs. Gene Expr Patterns 2004 0.93
90 Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat 2010 0.93
91 Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy. BMC Med Genomics 2011 0.92
92 Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 0.92
93 Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans. BMC Genet 2009 0.92
94 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009 0.92
95 Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease. BMC Bioinformatics 2008 0.91
96 Gene expression variation between mouse inbred strains. BMC Genomics 2004 0.91
97 New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann N Y Acad Sci 2010 0.91
98 mRNA degradation controls differentiation state-dependent differences in transcript and splice variant abundance. Nucleic Acids Res 2010 0.90
99 Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A 2003 0.90
100 DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 2004 0.89
101 Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. Neuromuscul Disord 2009 0.89
102 Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 2010 0.89
103 Nutrigenomics: the impact of biomics technology on nutrition research. Ann Nutr Metab 2005 0.88
104 Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur J Hum Genet 2010 0.88
105 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat 2013 0.87
106 DMD transcript imbalance determines dystrophin levels. FASEB J 2013 0.87
107 Determining the quality and complexity of next-generation sequencing data without a reference genome. Genome Biol 2014 0.86
108 Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Hum Mutat 2011 0.86
109 DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts. PLoS Genet 2013 0.86
110 Experiences with array-based sequence capture; toward clinical applications. Eur J Hum Genet 2010 0.86
111 Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4. Neurobiol Dis 2006 0.85
112 Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet 2012 0.85
113 Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon. Neurobiol Dis 2013 0.84
114 Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy. Pharmacogenomics 2006 0.84
115 High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis. Hum Mutat 2010 0.84
116 Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn 2007 0.83
117 RNA sequencing: from tag-based profiling to resolving complete transcript structure. Cell Mol Life Sci 2014 0.83
118 GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbers. Genome Biol 2003 0.83
119 The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV. BMC Genomics 2014 0.83
120 Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation. PLoS One 2010 0.82
121 Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification. Nucleic Acid Ther 2013 0.82
122 Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice. Carcinogenesis 2015 0.82
123 Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection. BMC Biotechnol 2009 0.81
124 beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays. Eur J Hum Genet 2004 0.81
125 A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. Hum Genet 2006 0.80
126 High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod. BMC Mol Biol 2011 0.79
127 Genetic tests need the Human Variome Project. Genet Test Mol Biomarkers 2011 0.78
128 Transcriptional responses indicate attenuated oxidative stress in the springtail Folsomia candida exposed to mixtures of cadmium and phenanthrene. Ecotoxicology 2013 0.78
129 Selection and characterization of llama single domain antibodies against N-terminal huntingtin. Neurol Sci 2014 0.78
130 SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing. Nucleic Acids Res 2015 0.77
131 GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. Am J Med Genet A 2013 0.76
132 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J Hum Genet 2008 0.76
133 Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Hum Mutat 2014 0.76
134 Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. Hum Mutat 2005 0.75
135 Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet 2011 0.75
136 Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. Clin Biochem Rev 2012 0.75
137 Protein truncation test. Curr Protoc Hum Genet 2004 0.75
138 The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic Identity. Hum Mutat 2015 0.75