Published in Hum Mol Genet on January 06, 2011
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet (2012) 2.56
Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One (2012) 2.33
The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95
Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci Transl Med (2011) 1.91
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Exome sequencing: a transformative technology. Lancet Neurol (2011) 1.57
Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. Trends Genet (2011) 1.38
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation (2012) 1.03
A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet (2012) 1.00
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol (2011) 0.99
Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals. Genet Epidemiol (2012) 0.96
Metabolism of very long-chain Fatty acids: genes and pathophysiology. Biomol Ther (Seoul) (2014) 0.96
An estimate of the average number of recessive lethal mutations carried by humans. Genetics (2015) 0.91
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet (2012) 0.83
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. J Biol Chem (2013) 0.83
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. Am J Med Genet A (2012) 0.81
Dual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation. J Biol Chem (2014) 0.80
Estimating the inbreeding depression on cognitive behavior: a population based study of child cohort. PLoS One (2014) 0.80
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics (2011) 0.79
Disclosure of genetic research results to members of a founder population. J Genet Couns (2014) 0.78
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives. Biomed Res Int (2015) 0.78
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. JIMD Rep (2015) 0.76
Biomedical impact of splicing mutations revealed through exome sequencing. Mol Med (2012) 0.76
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet (2016) 0.75
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population. Mol Genet Genomic Med (2016) 0.75
Two modes of regulation of the fatty acid elongase ELOVL6 by the 3-ketoacyl-CoA reductase KAR in the fatty acid elongation cycle. PLoS One (2014) 0.75
A nutritional supplement containing lactoferrin stimulates the immune system, extends lifespan, and reduces amyloid β peptide toxicity in Caenorhabditis elegans. Food Sci Nutr (2016) 0.75
CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res (1994) 392.47
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry (2007) 3.44
The genetic dissection of complex traits in a founder population. Am J Hum Genet (2001) 3.36
X-linked mental retardation. Nat Rev Genet (2005) 3.10
Genetics and pathophysiology of mental retardation. Eur J Hum Genet (2006) 2.52
Molecular and comparative genetics of mental retardation. Genetics (2004) 2.38
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
Glycans and neural cell interactions. Nat Rev Neurosci (2004) 2.03
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Testing for Hardy-Weinberg equilibrium in samples with related individuals. Genetics (2004) 1.75
Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res (2008) 1.71
Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. J Biol Chem (2002) 1.63
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23
The synaptic glycoprotein neuroplastin is involved in long-term potentiation at hippocampal CA1 synapses. Proc Natl Acad Sci U S A (2000) 1.21
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics (1998) 1.16
Genetics of autosomal recessive non-syndromic mental retardation: recent advances. Clin Genet (2007) 1.13
Glycobiology of the synapse. Glycobiology (2002) 1.03
Diagnosis and epidemiology of autism spectrum disorders. Can J Psychiatry (2003) 1.00
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet (2003) 0.98
Neural system-enriched gene expression: relationship to biological pathways and neurological diseases. Physiol Genomics (2004) 0.96
X-linked mental retardation. Med Sci Monit (2008) 0.88
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A (2008) 0.81
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature (2012) 31.78
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med (2013) 19.87
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
Initial genome sequencing and analysis of multiple myeloma. Nature (2011) 17.28
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
The mutational landscape of head and neck squamous cell carcinoma. Science (2011) 16.88
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol (2013) 16.13
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
The genomic complexity of primary human prostate cancer. Nature (2011) 14.06
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
A common variant associated with prostate cancer in European and African populations. Nat Genet (2006) 13.47
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
A landscape of driver mutations in melanoma. Cell (2012) 12.61
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet (2008) 12.51
Prepublication data sharing. Nature (2009) 12.24
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
The somatic genomic landscape of glioblastoma. Cell (2013) 11.73
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell (2012) 11.69
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med (2011) 11.07
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nat Genet (2012) 9.93
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell (2013) 9.24
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74
Integrative analysis of the melanoma transcriptome. Genome Res (2010) 8.46
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
Melanoma genome sequencing reveals frequent PREX2 mutations. Nature (2012) 7.77
Sequence analysis of mutations and translocations across breast cancer subtypes. Nature (2012) 7.76
Pan-cancer patterns of somatic copy number alteration. Nat Genet (2013) 7.73
Punctuated evolution of prostate cancer genomes. Cell (2013) 7.23
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A (2012) 7.14
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med (2014) 6.89
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. Nat Genet (2010) 6.10
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10
SCAN: SNP and copy number annotation. Bioinformatics (2009) 5.96
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med (2015) 5.71
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov (2011) 5.30
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature (2012) 5.23
Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol (2004) 5.06
High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science (2008) 5.02
The sex-specific genetic architecture of quantitative traits in humans. Nat Genet (2006) 4.93
The genetic landscape of high-risk neuroblastoma. Nat Genet (2013) 4.71
Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. N Engl J Med (2008) 4.58
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat Genet (2013) 4.48
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Paternally inherited HLA alleles are associated with women's choice of male odor. Nat Genet (2002) 3.79
The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. Cancer Discov (2013) 3.71
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet (2011) 3.68
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Prognostically relevant gene signatures of high-grade serous ovarian carcinoma. J Clin Invest (2012) 3.64
Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus. Am J Hum Genet (2003) 3.62
Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62
Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites. Am J Hum Genet (2002) 3.51
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet (2010) 3.31
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
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med (2015) 3.00