PubRank

Jay Shendure

Author PubWeight™ 381.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009 33.96
2 Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2009 32.06
3 Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010 18.45
4 Multiplex amplification of large sets of human exons. Nat Methods 2007 15.11
5 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012 14.76
6 Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011 14.29
7 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010 12.63
8 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011 11.94
9 Diversity of human copy number variation and multicopy genes. Science 2010 8.97
10 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2012 8.91
11 Target-enrichment strategies for next-generation sequencing. Nat Methods 2010 8.78
12 A high-coverage genome sequence from an archaic Denisovan individual. Science 2012 7.89
13 A three-dimensional model of the yeast genome. Nature 2010 7.01
14 Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet 2011 6.52
15 Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 2009 6.36
16 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012 6.21
17 Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol 2010 6.07
18 Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol 2010 5.32
19 Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet 2012 5.28
20 Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol 2012 4.51
21 Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods 2010 4.51
22 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012 4.51
23 The beginning of the end for microarrays? Nat Methods 2008 4.19
24 Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience 2013 4.11
25 Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012 3.94
26 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013 3.64
27 High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis. Nat Biotechnol 2009 3.58
28 Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A 2011 3.54
29 Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015 3.30
30 Massively parallel sequencing and rare disease. Hum Mol Genet 2010 3.28
31 Somatic mutations in cerebral cortical malformations. N Engl J Med 2014 3.13
32 Parallel, tag-directed assembly of locally derived short sequence reads. Nat Methods 2010 3.05
33 Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses. Cell 2012 2.94
34 Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res 2010 2.87
35 Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci U S A 2003 2.77
36 Fluorescent in situ sequencing on polymerase colonies. Anal Biochem 2003 2.70
37 The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature 2013 2.65
38 A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nat Genet 2013 2.59
39 Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting. Mol Cell 2012 2.54
40 Identification of foreign gene sequences by transcript filtering against the human genome. Nat Genet 2002 2.52
41 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012 2.50
42 Estimating the human mutation rate using autozygosity in a founder population. Nat Genet 2012 2.44
43 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 2014 2.30
44 Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 2013 2.29
45 The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Res 2013 2.20
46 Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet 2010 2.19
47 Genome-scale identification of resistance functions in Pseudomonas aeruginosa using Tn-seq. MBio 2011 2.13
48 A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell 2007 2.12
49 Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster. Nat Genet 2011 2.07
50 Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008 2.06
51 Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat Biotechnol 2013 2.05
52 Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011 1.93
53 Methods for genomic partitioning. Annu Rev Genomics Hum Genet 2009 1.93
54 GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013 1.85
55 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012 1.70
56 Long-range polony haplotyping of individual human chromosome molecules. Nat Genet 2006 1.69
57 Mutation discovery in mice by whole exome sequencing. Genome Biol 2011 1.69
58 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012 1.65
59 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012 1.63
60 Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation. Dev Cell 2013 1.61
61 Discovering functional transcription-factor combinations in the human cell cycle. Genome Res 2005 1.53
62 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012 1.53
63 Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet 2015 1.51
64 Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing. Genome Res 2012 1.50
65 Single molecule profiling of alternative pre-mRNA splicing. Science 2003 1.48
66 Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res 2011 1.47
67 Capturing native long-range contiguity by in situ library construction and optical sequencing. Proc Natl Acad Sci U S A 2012 1.47
68 Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 2012 1.46
69 Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A 2012 1.44
70 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011 1.43
71 Next generation sequence analysis for mitochondrial disorders. Genome Med 2009 1.42
72 Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 2013 1.40
73 Extraordinary molecular evolution in the PRDM9 fertility gene. PLoS One 2009 1.35
74 Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods 2006 1.34
75 Rapid 16S rRNA next-generation sequencing of polymicrobial clinical samples for diagnosis of complex bacterial infections. PLoS One 2013 1.33
76 Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis. Proc Natl Acad Sci U S A 2013 1.32
77 megaTALs: a rare-cleaving nuclease architecture for therapeutic genome engineering. Nucleic Acids Res 2013 1.30
78 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 2015 1.24
79 IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 2009 1.21
80 Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection. Genome Res 2011 1.20
81 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013 1.19
82 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014 1.14
83 Tagmentation-based whole-genome bisulfite sequencing. Nat Protoc 2013 1.14
84 Exome-wide DNA capture and next generation sequencing in domestic and wild species. BMC Genomics 2011 1.13
85 Targeted enrichment of specific regions in the human genome by array hybridization. Curr Protoc Hum Genet 2010 1.11
86 Next-generation human genetics. Genome Biol 2011 1.07
87 Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain. Aging Cell 2013 1.05
88 Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet 2012 1.04
89 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 2013 1.03
90 Non-invasive fetal genome sequencing: opportunities and challenges. Am J Med Genet A 2012 0.98
91 Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes. Genome Biol 2014 0.97
92 Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods 2013 0.96
93 Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 2013 0.94
94 Accurate gene synthesis with tag-directed retrieval of sequence-verified DNA molecules. Nat Methods 2012 0.92
95 Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility. Cancer Epidemiol Biomarkers Prev 2013 0.89
96 Cancer genomes on a shoestring budget. N Engl J Med 2009 0.89
97 Polony DNA sequencing. Curr Protoc Mol Biol 2006 0.87
98 Noninvasive fetal genome sequencing: a primer. Prenat Diagn 2013 0.85
99 A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet 2013 0.85
100 Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 2015 0.84
101 Biome representational in silico karyotyping. Genome Res 2011 0.83
102 A genome-wide 3C-method for characterizing the three-dimensional architectures of genomes. Methods 2012 0.82
103 What's a Genome Worth? Sci Transl Med 2012 0.82
104 Discovery of T cell antigens by high-throughput screening of synthetic minigene libraries. PLoS One 2012 0.80
105 Genome interrupted: sequencing of prostate cancer reveals the importance of chromosomal rearrangements. Genome Med 2011 0.80
106 FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 2016 0.78
107 Identification of novel HLA class II target epitopes for generation of donor-specific T regulatory cells. Clin Immunol 2012 0.75
108 Copy-Number Variation and False Positive Results of Prenatal Screening. N Engl J Med 2015 0.75
109 Sequencing thoroughbreds. Nat Biotechnol 2006 0.75
110 Correction: A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota. PLoS Genet 2017 0.75
111 Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. Genome Res 2015 0.75
112 Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types. Nat Med 2017 0.75