PubRank

Lars Feuk

Author PubWeight™ 315.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Global variation in copy number in the human genome. Nature 2006 57.50
2 Detection of large-scale variation in the human genome. Nat Genet 2004 49.18
3 The diploid genome sequence of an individual human. PLoS Biol 2007 44.80
4 Origins and functional impact of copy number variation in the human genome. Nature 2009 23.63
5 Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008 15.51
6 Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007 14.05
7 Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010 13.70
8 Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010 12.27
9 Prepublication data sharing. Nature 2009 12.24
10 Copy number variation: new insights in genome diversity. Genome Res 2006 8.66
11 Genome assembly comparison identifies structural variants in the human genome. Nat Genet 2006 6.93
12 Challenges and standards in integrating surveys of structural variation. Nat Genet 2007 6.05
13 Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 2006 5.50
14 Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nat Genet 2009 4.52
15 The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2013 4.42
16 Public data archives for genomic structural variation. Nat Genet 2010 3.92
17 Copy-number variation in control population cohorts. Hum Mol Genet 2007 3.88
18 Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 2011 3.25
19 Towards a comprehensive structural variation map of an individual human genome. Genome Biol 2010 2.79
20 Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nat Struct Mol Biol 2011 2.73
21 Global and unbiased detection of splice junctions from RNA-seq data. Genome Biol 2010 2.32
22 Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 2008 2.22
23 Linkage disequilibrium patterns vary substantially among populations. Eur J Hum Genet 2005 1.73
24 Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 2006 1.70
25 Strategies for the detection of copy number and other structural variants in the human genome. Hum Genomics 2006 1.32
26 Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat 2013 1.26
27 Genome-wide association study of susceptibility loci for cervical cancer. J Natl Cancer Inst 2013 1.22
28 Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat 2012 1.16
29 Frequent appearance of novel protein-coding sequences by frameshift translation. Genomics 2006 1.14
30 Genetic variation in a haplotype block spanning IDE influences Alzheimer disease. Hum Mutat 2003 1.14
31 Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am J Hum Genet 2012 1.13
32 Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing. Genome Biol 2010 1.13
33 Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene. Hum Mol Genet 2004 1.13
34 Haplotypes extending across ACE are associated with Alzheimer's disease. Hum Mol Genet 2003 1.11
35 Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. J Clin Invest 2014 1.00
36 Towards compendia of negative genetic association studies: an example for Alzheimer disease. Hum Genet 2005 1.00
37 Sequence variants of IDE are associated with the extent of beta-amyloid deposition in the Alzheimer's disease brain. Neurobiol Aging 2005 0.99
38 Exome RNA sequencing reveals rare and novel alternative transcripts. Nucleic Acids Res 2012 0.96
39 Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat 2012 0.95
40 Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. Hum Genet 2004 0.92
41 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet 2012 0.92
42 Longitudinal memory performance during normal aging: twin association models of APOE and other Alzheimer candidate genes. Behav Genet 2006 0.91
43 Characterization of copy number-stable regions in the human genome. Hum Mutat 2011 0.90
44 Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. Epilepsia 2012 0.83
45 Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder. BMC Med Genet 2012 0.82
46 Characterizing and interpreting genetic variation from personal genome sequencing. Methods Mol Biol 2012 0.79
47 RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes. Hum Mol Genet 2013 0.78