Published in Neurology on June 06, 2012
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16
Genomic medicine enters the neurology clinic. Neurology (2012) 0.93
Next-generation sequencing in understanding complex neurological disease. Expert Rev Neurother (2013) 0.84
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet (2014) 0.80
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. Iran Biomed J (2016) 0.75
Lysosomal diseases: diagnostic update. J Inherit Metab Dis (2014) 0.75
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
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
Generalized gangliosidosis: beta-galactosidase deficiency. Science (1968) 2.51
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet (1991) 1.72
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab (2008) 1.33
Neurogenetics: advancing the "next-generation" of brain research. Neuron (2010) 1.16
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am J Hum Genet (1991) 1.02
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta (2011) 0.97
beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. J Child Neurol (1997) 0.95
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
CDD: a Conserved Domain Database for protein classification. Nucleic Acids Res (2005) 18.85
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol (2003) 13.32
Empirical analysis of transcriptional activity in the Arabidopsis genome. Science (2003) 11.62
Identification and characterization of multi-species conserved sequences. Genome Res (2003) 10.18
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet (2011) 7.31
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet (2007) 6.63
The mosaic structure of variation in the laboratory mouse genome. Nature (2002) 6.54
Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells. Nat Med (2013) 6.01
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus. Nature (2013) 5.35
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences. Nucleic Acids Res (2003) 4.97
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Completing the map of human genetic variation. Nature (2007) 4.38
An intermediate grade of finished genomic sequence suitable for comparative analyses. Genome Res (2004) 4.38
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci U S A (2005) 4.38
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution. Science (2013) 4.07
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84
Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. Nat Genet (2009) 3.80
Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies. Nature (2014) 3.73
Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes. Genome Res (2003) 3.52
Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet (2003) 3.52
Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci U S A (2004) 3.41
Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet (2002) 3.24
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med (2010) 3.09
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
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Great ape genetic diversity and population history. Nature (2013) 2.95
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A (2013) 2.93
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet (2002) 2.91
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae. Sci Transl Med (2014) 2.87
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet (2012) 2.71
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma. Nat Genet (2011) 2.60