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Times Cited: 423
Times Cited
Times Co-cited
Similarity
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A copy number variation morbidity map of developmental delay.
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Estimates of penetrance for recurrent pathogenic copy-number variations.
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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The penetrance of copy number variations for schizophrenia and developmental delay.
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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Association between microdeletion and microduplication at 16p11.2 and autism.
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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
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Functional impact of global rare copy number variation in autism spectrum disorders.
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
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Strong association of de novo copy number mutations with autism.
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Joseph T Glessner, Kai Wang, Guiqing Cai, Olena Korvatska, Cecilia E Kim, Shawn Wood, Haitao Zhang, Annette Estes, Camille W Brune, Jonathan P Bradfield,[...]. Nature 2009
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
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De novo gene disruptions in children on the autistic spectrum.
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
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Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
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Recurrent 16p11.2 microdeletions in autism.
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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A copy number variation map of the human genome.
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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
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Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Michael H Duyzend, Xander Nuttle, Bradley P Coe, Carl Baker, Deborah A Nickerson, Raphael Bernier, Evan E Eichler. Am J Hum Genet 2016
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A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont, Bradley P Coe, Micha Hersch, Michael H Duyzend, Niklas Krumm, Sven Bergmann, Jacques S Beckmann, Jill A Rosenfeld, Evan E Eichler. Am J Hum Genet 2014
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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.