Published in Hum Mutat on January 01, 2008
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev (2008) 1.44
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning. Nature (2008) 26.78
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet (2008) 20.38
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature (2010) 18.69
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Gene expression profiling of gliomas strongly predicts survival. Cancer Res (2004) 7.79
BFAST: an alignment tool for large scale genome resequencing. PLoS One (2009) 7.48
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med (2011) 4.98
Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance. Nat Commun (2012) 4.94
Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med (2006) 4.63
Population screening in the age of genomic medicine. N Engl J Med (2003) 3.89
Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks. BMC Genomics (2006) 3.87
Identification of molecular subtypes of glioblastoma by gene expression profiling. Oncogene (2003) 3.83
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Distinct transcription profiles of primary and secondary glioblastoma subgroups. Cancer Res (2006) 3.41
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med (2012) 3.18
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Gene expression profiling identifies molecular subtypes of gliomas. Oncogene (2003) 3.13
Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy. Clin Cancer Res (2010) 3.05
Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids. Proc Natl Acad Sci U S A (2006) 3.03
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01
Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol (2012) 3.01
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet (2010) 2.99
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy. Cancer Biol Ther (2003) 2.38
Celsius: a community resource for Affymetrix microarray data. Genome Biol (2007) 2.38
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet (2007) 2.35
Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age. BMC Med Genomics (2008) 2.29
Use of electrochemical DNA biosensors for rapid molecular identification of uropathogens in clinical urine specimens. J Clin Microbiol (2006) 2.27
Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet (2004) 2.24
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24
Deformability-based cell classification and enrichment using inertial microfluidics. Lab Chip (2011) 2.21
Primary glioblastomas express mesenchymal stem-like properties. Mol Cancer Res (2006) 2.18
Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data. Nucleic Acids Res (2004) 2.17
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med (2012) 2.08
Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA. Science (2013) 2.00
Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells. J Neurosci Res (2008) 1.96
Local alignment of two-base encoded DNA sequence. BMC Bioinformatics (2009) 1.94
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells. J Biol Chem (2007) 1.83
Down syndrome: coercion and eugenics. Genet Med (2011) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Fyn and SRC are effectors of oncogenic epidermal growth factor receptor signaling in glioblastoma patients. Cancer Res (2009) 1.79
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 1.79
Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis. Mol Genet Metab (2006) 1.77
Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. J Cell Biol (2005) 1.74
SeqWare Query Engine: storing and searching sequence data in the cloud. BMC Bioinformatics (2010) 1.72
MicroRNA profiling and head and neck cancer. Comp Funct Genomics (2009) 1.68
Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology (2008) 1.65
Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet (2005) 1.65
Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array. Hum Genet (2004) 1.64
DNA-microarray analysis of brain cancer: molecular classification for therapy. Nat Rev Neurosci (2004) 1.64
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet (2002) 1.63
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet (2012) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis. Radiology (2008) 1.58
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. Genome Biol (2010) 1.56
Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics (2009) 1.55
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Development of an advanced electrochemical DNA biosensor for bacterial pathogen detection. J Mol Diagn (2007) 1.52
Single-gene disorders: what role could moonlighting enzymes play? Am J Hum Genet (2005) 1.52
Accuracy of phenotyping of autistic children based on Internet implemented parent report. Am J Med Genet B Neuropsychiatr Genet (2010) 1.51
Pomegranate juice ellagitannin metabolites are present in human plasma and some persist in urine for up to 48 hours. J Nutr (2006) 1.51
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol (2009) 1.49
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine. J Lipid Res (2005) 1.44
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes. J Child Psychol Psychiatry (2005) 1.40
Detection of a microRNA signal in an in vivo expression set of mRNAs. PLoS One (2007) 1.40
Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. Am J Hum Genet (2002) 1.39
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet (2011) 1.39
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am J Hum Genet (2003) 1.36
Molecular mechanisms of DAX1 action. Mol Genet Metab (2004) 1.35
Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2. Clin Cancer Res (2007) 1.35
Prediction of antimicrobial peptides based on sequence alignment and feature selection methods. PLoS One (2011) 1.34
Reconstructing the initial global spread of a human influenza pandemic: a Bayesian spatial-temporal model for the global spread of H1N1pdm. PLoS Curr (2009) 1.33
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. Brief Bioinform (2014) 1.32
Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors. J Neurooncol (2009) 1.32
Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array. Mol Genet Metab (2004) 1.31
Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone. J Neurooncol (2009) 1.26
Predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology (2010) 1.25
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. Am J Hum Genet (2010) 1.24