Exome sequencing as a tool for Mendelian disease gene discovery.

An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82

Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12

Analysis of protein-coding genetic variation in 60,706 humans. Nature (2016) 11.83

Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30

Clinical interpretation and implications of whole-genome sequencing. JAMA (2014) 7.24

Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet (2013) 6.67

Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44

De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81

A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet (2012) 3.58

Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet (2014) 3.42

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet (2014) 3.39

The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33

Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet (2013) 3.30

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75

Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74

Three-dimensional reconstruction of protein networks provides insight into human genetic disease. Nat Biotechnol (2012) 2.67

Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides. Proc Natl Acad Sci U S A (2013) 2.63

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol (2014) 2.62

Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics (2014) 2.37

Efficiency and power as a function of sequence coverage, SNP array density, and imputation. PLoS Comput Biol (2012) 2.29

Sequencing studies in human genetics: design and interpretation. Nat Rev Genet (2013) 2.27

A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24

Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature (2013) 2.24

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet (2015) 2.22

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. PLoS One (2015) 2.05

Personal and population genomics of human regulatory variation. Genome Res (2012) 2.01

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet (2013) 1.93

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol (2012) 1.93

Genetics of human cardiovascular disease. Cell (2012) 1.90

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet (2012) 1.82

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia (2013) 1.78

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet (2015) 1.76

A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet (2016) 1.75

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr (2012) 1.74

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet (2013) 1.69

A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med (2013) 1.68

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int (2013) 1.66

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res (2014) 1.63

Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain (2014) 1.61

Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57

Clinical genomic database. Proc Natl Acad Sci U S A (2013) 1.54

Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet (2012) 1.52

Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet (2015) 1.51

Variant callers for next-generation sequencing data: a comparison study. PLoS One (2013) 1.50

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet (2012) 1.50

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa. Sci Rep (2015) 1.49

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014) 1.46

Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46

Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol (2016) 1.45

Clinical exome sequencing in neurologic disease. Neurol Clin Pract (2016) 1.45

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res (2013) 1.44

Self-guided management of exome and whole-genome sequencing results: changing the results return model. Genet Med (2013) 1.43

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci U S A (2015) 1.43

Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet (2013) 1.43

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family. PLoS One (2015) 1.42

New approaches to establish genetic causality. Trends Cardiovasc Med (2015) 1.41

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. Proc Natl Acad Sci U S A (2015) 1.41

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs. Nucleic Acids Res (2014) 1.38

The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci U S A (2015) 1.37

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet (2014) 1.35

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet (2012) 1.34

The effect of strand bias in Illumina short-read sequencing data. BMC Genomics (2012) 1.34

Barley whole exome capture: a tool for genomic research in the genus Hordeum and beyond. Plant J (2013) 1.34

The role and challenges of exome sequencing in studies of human diseases. Front Genet (2013) 1.33

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32

Three-stage quality control strategies for DNA re-sequencing data. Brief Bioinform (2013) 1.30

Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med (2014) 1.30

Sequence-based mapping of the polyploid wheat genome. G3 (Bethesda) (2013) 1.29

WEP: a high-performance analysis pipeline for whole-exome data. BMC Bioinformatics (2013) 1.27

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol (2012) 1.26

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25

Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One (2012) 1.24

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic Acids Res (2012) 1.22

Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet (2014) 1.22

Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A (2013) 1.21

Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent. J Genet Couns (2013) 1.21

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet (2012) 1.19

The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet (2014) 1.19

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18

GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. Nucleic Acids Res (2013) 1.18

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One (2013) 1.18

Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One (2012) 1.17

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet (2015) 1.14

Systematic comparison of variant calling pipelines using gold standard personal exome variants. Sci Rep (2015) 1.14

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet (2012) 1.13

Partitioning the heart: mechanisms of cardiac septation and valve development. Development (2012) 1.13

Discovering motifs that induce sequencing errors. BMC Bioinformatics (2013) 1.13

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PLoS Genet (2015) 1.12

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

Finding the missing heritability of complex diseases. Nature (2009) 67.95

A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36

Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62

Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96

Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet (2008) 26.79

Disclosing individual genetic results to research participants. Am J Bioeth (2006) 22.12

Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65

A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64

Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45

Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73

Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09

Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90

Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet (2010) 13.18

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63

Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics (2008) 12.10

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92

Genetic heterogeneity in human disease. Cell (2010) 10.67

An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol (2010) 10.54

Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62

Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet (2007) 9.61

Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53

Charting a course for genomic medicine from base pairs to bedside. Nature (2011) 9.39

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med (2011) 9.03

Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78

NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71

Genotype and SNP calling from next-generation sequencing data. Nat Rev Genet (2011) 8.34

Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med (2011) 8.20

Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87

Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34

Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84

Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74

Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A (2008) 5.94

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res (2005) 5.62

Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol (2008) 5.24

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95

Offering individual genetic research results: context matters. Sci Transl Med (2010) 4.51

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51

Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97

Multigene amplification and massively parallel sequencing for cancer mutation discovery. Proc Natl Acad Sci U S A (2007) 3.93

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain (2010) 3.66

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics (2009) 3.24

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09

Challenges in the clinical application of whole-genome sequencing. Lancet (2010) 2.92

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81

Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector. Nucleic Acids Res (2007) 2.70

Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38

PHAST and RPHAST: phylogenetic analysis with space/time models. Brief Bioinform (2010) 2.36

Mendelian disorders deserve more attention. Nat Rev Genet (2006) 2.36

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet (2011) 2.23

Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol (2011) 2.09

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One (2010) 1.99

Methods for genomic partitioning. Annu Rev Genomics Hum Genet (2009) 1.93

Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci Transl Med (2011) 1.91

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat (2010) 1.76

The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat (2007) 1.71

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51

New therapeutic approaches to mendelian disorders. N Engl J Med (2010) 1.47

Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease. Circ Cardiovasc Genet (2010) 1.33

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31

Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa). J Invest Dermatol (2011) 1.23

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. Bioinformatics (2011) 1.17

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol (2011) 1.10

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine. Ann N Y Acad Sci (2010) 1.10

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med (2010) 1.08

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res (2011) 1.05

Human genetics. Affordable 'exomes' fill gaps in a catalog of rare diseases. Science (2010) 1.02

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. J Med Genet (2011) 1.02

Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96

Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06

Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28

Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52

Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45

Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12

Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94

Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04

Diversity of human copy number variation and multicopy genes. Science (2010) 8.97

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91

Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77

A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89

Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16

Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11

A three-dimensional model of the yeast genome. Nature (2010) 7.01

Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99

Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52

Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48

Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47

Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28

Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94

Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81

Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53

Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol (2012) 4.51

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51

Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44

Completing the map of human genetic variation. Nature (2007) 4.38

The beginning of the end for microarrays? Nat Methods (2008) 4.19

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11

Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet (2008) 4.02

Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94

Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93

Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91

A genomewide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet (2007) 3.85

Mutational and selective effects on copy-number variants in the human genome. Nat Genet (2007) 3.82

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64

Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet (2008) 3.61

High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis. Nat Biotechnol (2009) 3.58

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54

Genetic ancestry in lung-function predictions. N Engl J Med (2010) 3.30

Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med (2015) 3.30

Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28

Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. JAMA (2006) 3.26

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21

Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12

De novo rates and selection of large copy number variation. Genome Res (2010) 3.08

Parallel, tag-directed assembly of locally derived short sequence reads. Nat Methods (2010) 3.05

Overexpression of catalase targeted to mitochondria attenuates murine cardiac aging. Circulation (2009) 2.96

Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses. Cell (2012) 2.94

Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol (2006) 2.94

Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res (2010) 2.87

Estimating coverage and power for genetic association studies using near-complete variation data. Nat Genet (2008) 2.80

Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci U S A (2003) 2.77

Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Am J Hum Genet (2005) 2.71

Fluorescent in situ sequencing on polymerase colonies. Anal Biochem (2003) 2.70

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature (2013) 2.65

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med (2008) 2.64