Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

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

Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29

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

Clinical assessment incorporating a personal genome. Lancet (2010) 10.18

A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics (2012) 9.97

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

Predicting the functional effect of amino acid substitutions and indels. PLoS One (2012) 8.61

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

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

BRAF mutations in hairy-cell leukemia. N Engl J Med (2011) 7.05

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

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

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

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

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biol (2011) 5.11

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

Alzheimer's disease: the challenge of the second century. Sci Transl Med (2011) 4.88

Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51

Case definitions, diagnostic algorithms, and priorities in encephalitis: consensus statement of the international encephalitis consortium. Clin Infect Dis (2013) 4.51

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26

Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23

Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med (2012) 4.05

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med (2012) 4.02

A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med (2014) 4.01

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85

Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81

Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76

Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74

A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A (2012) 3.72

The characterization of twenty sequenced human genomes. PLoS Genet (2010) 3.72

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

Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43

Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission. Proc Natl Acad Sci U S A (2014) 3.39

Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet (2010) 3.31

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

A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23

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

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell (2011) 2.93

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89

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

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain (2011) 2.80

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70

Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62

Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57

The expanding scope of DNA sequencing. Nat Biotechnol (2012) 2.57

Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52

Annotating non-coding regions of the genome. Nat Rev Genet (2010) 2.38

Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30

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

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19

Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol (2011) 2.15

Genome-wide association studies in pharmacogenomics. Nat Rev Genet (2010) 2.14

SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics (2011) 2.11

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

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med (2014) 2.08

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res (2012) 2.08

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08

Molecular genetic testing and the future of clinical genomics. Nat Rev Genet (2013) 2.03

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A (2013) 2.02

Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95

The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95

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

Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90

The GENCODE exome: sequencing the complete human exome. Eur J Hum Genet (2011) 1.88

Detecting false-positive signals in exome sequencing. Hum Mutat (2012) 1.87

Medical implications of technical accuracy in genome sequencing. Genome Med (2016) 1.86

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol (2014) 1.79

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79

Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet (2011) 1.79

Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants. Mutat Res (2011) 1.75

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A (2011) 1.71

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acids Res (2013) 1.70

Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol (2013) 1.70

Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69

Development of a high density 600K SNP genotyping array for chicken. BMC Genomics (2013) 1.68

Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities. Cancer Discov (2015) 1.64

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res (2011) 1.58

Exome sequencing: a transformative technology. Lancet Neurol (2011) 1.57

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol (2012) 1.57

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics (2009) 1.55

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54

The next-generation sequencing technology and application. Protein Cell (2010) 1.52

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet (2013) 1.52

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

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med (2011) 1.52

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51

Unraveling the genetics of autoimmunity. Cell (2010) 1.51

The SLC26 gene family of anion transporters and channels. Mol Aspects Med (2013) 1.50

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res (2011) 1.47

Phenotypic and genomic analyses of a fast neutron mutant population resource in soybean. Plant Physiol (2011) 1.45

Functional modules, mutational load and human genetic disease. Trends Genet (2010) 1.45

The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39

Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94

Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44

Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res (1998) 106.16

Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20

The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81

An integrated genomic analysis of human glioblastoma multiforme. Science (2008) 51.36

Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18

The diploid genome sequence of an Asian individual. Nature (2008) 46.29

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06

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

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

Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66

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

Genetic mapping in human disease. Science (2008) 15.12

Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet (2005) 14.30

Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet (2008) 13.95

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32

Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet (2008) 11.80

Genomewide association studies--illuminating biologic pathways. N Engl J Med (2009) 8.83

Genetic variation in an individual human exome. PLoS Genet (2008) 6.68

Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet (2009) 3.72

Isolation of specific RNA's using DNA covalently linked to diazobenzyloxymethyl cellulose or paper. Methods Enzymol (1979) 3.04

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70

slc26a3 (dra)-deficient mice display chloride-losing diarrhea, enhanced colonic proliferation, and distinct up-regulation of ion transporters in the colon. J Biol Chem (2006) 2.20

Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem (2008) 1.43

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28

De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61

High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med (2002) 11.28

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61

Spatio-temporal transcriptome of the human brain. Nature (2011) 9.19

Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20

Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA (2007) 7.12

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00

Comprehensive analysis of mRNA methylation reveals enrichment in 3' UTRs and near stop codons. Cell (2012) 6.99

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med (2010) 6.45

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

Performance comparison of one-color and two-color platforms within the MicroArray Quality Control (MAQC) project. Nat Biotechnol (2006) 5.92

A novel miRNA processing pathway independent of Dicer requires Argonaute2 catalytic activity. Science (2010) 5.84

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40

De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15

Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70

Comprehensive evaluation of differential gene expression analysis methods for RNA-seq data. Genome Biol (2013) 4.67

LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26

WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet (2003) 4.08

Sex-specific and lineage-specific alternative splicing in primates. Genome Res (2009) 3.61

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet (2006) 3.57

Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A (2003) 3.48

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45

Microarray results: how accurate are they? BMC Bioinformatics (2002) 3.23

Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15

Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med (2012) 3.14

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

Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) (2005) 3.01

L-histidine decarboxylase and Tourette's syndrome. N Engl J Med (2010) 2.92

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91

Molecular physiology of the WNK kinases. Annu Rev Physiol (2008) 2.58

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum (2007) 2.56

The Pediatric Rheumatology International Trials Organization criteria for the evaluation of response to therapy in juvenile systemic lupus erythematosus: prospective validation of the disease activity core set. Arthritis Rheum (2005) 2.55

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54

Insights from gene arrays on the development and growth regulation of uterine leiomyomata. Fertil Steril (2002) 2.48

A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab (2008) 2.48

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet (2002) 2.41

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41

Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia. Nat Genet (2013) 2.38

Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet (2008) 2.31

Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proc Natl Acad Sci U S A (2009) 2.30

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature (2003) 2.22

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (2010) 2.21

Roles of the cation-chloride cotransporters in neurological disease. Nat Clin Pract Neurol (2008) 2.19

Individual genomes on the horizon. N Engl J Med (2010) 2.09

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09

Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet (2006) 2.07

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A (2013) 2.02

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet (2009) 2.02

Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96

WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci U S A (2005) 1.96

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science (2004) 1.95

Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell (2009) 1.93

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

Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90

Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet (2011) 1.89

Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases. Proc Natl Acad Sci U S A (2008) 1.88

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet (2004) 1.87

Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Proc Natl Acad Sci U S A (2003) 1.82

WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. Proc Natl Acad Sci U S A (2005) 1.76

Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. J Am Soc Nephrol (2008) 1.76