Published in Clin Chem on September 27, 2007
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MLPA for confirmation of array CGH results and determination of inheritance. Mol Cytogenet (2010) 1.02
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The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat Biotechnol (2006) 30.90
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science (2002) 7.92
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nat Biotechnol (2010) 7.08
Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum (2012) 6.85
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet (2009) 6.42
Performance comparison of one-color and two-color platforms within the MicroArray Quality Control (MAQC) project. Nat Biotechnol (2006) 5.92
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet (2008) 5.04
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Toward interoperable bioscience data. Nat Genet (2012) 4.72
Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway. Proc Natl Acad Sci U S A (2004) 4.70
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol (2004) 3.97
Cross-platform comparability of microarray technology: intra-platform consistency and appropriate data analysis procedures are essential. BMC Bioinformatics (2005) 3.93
Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron (2004) 3.90
Children with complex chronic conditions in inpatient hospital settings in the United States. Pediatrics (2010) 3.84
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
ArrayTrack--supporting toxicogenomic research at the U.S. Food and Drug Administration National Center for Toxicological Research. Environ Health Perspect (2003) 3.39
Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet (2002) 3.34
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. J Comp Neurol (2004) 3.20
Mitochondrial energetics in the heart in obesity-related diabetes: direct evidence for increased uncoupled respiration and activation of uncoupling proteins. Diabetes (2007) 3.20
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell (2012) 3.13
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol (2003) 3.01
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet (2004) 3.01
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron (2011) 2.83
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet (2010) 2.74
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
QA/QC: challenges and pitfalls facing the microarray community and regulatory agencies. Expert Rev Mol Diagn (2004) 2.73
Somatic mutation, genomic variation, and neurological disease. Science (2013) 2.72
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Evaluation of external RNA controls for the assessment of microarray performance. Nat Biotechnol (2006) 2.59
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science (2005) 2.56
The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics (2008) 2.54
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Molecular approaches to brain asymmetry and handedness. Nat Rev Neurosci (2006) 2.32
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet (2004) 2.32
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development (2010) 2.31
Development of public toxicogenomics software for microarray data management and analysis. Mutat Res (2004) 2.29
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A (2006) 2.28
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron (2006) 2.24
The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol (2003) 2.22
Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One (2010) 2.14
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet (2011) 2.12
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
Clinical pharmacy education in China. Am J Pharm Educ (2008) 2.10
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med (2008) 2.10
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol (2009) 2.06
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2012) 2.04
Microarray scanner calibration curves: characteristics and implications. BMC Bioinformatics (2005) 2.02
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. J Proteome Res (2007) 2.00
Assessing batch effects of genotype calling algorithm BRLMM for the Affymetrix GeneChip Human Mapping 500 K array set using 270 HapMap samples. BMC Bioinformatics (2008) 1.98
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98