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Genome structural variation discovery and genotyping.
- Published in:
- Nature Reviews Genetics, 2011, v. 12, n. 5, p. 363, doi. 10.1038/nrg2958
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- Publication type:
- Article
Overexpression of LRP12, a gene contained within an 8q22 amplicon identified by high-resolution array CGH analysis of oral squamous cell carcinomas.
- Published in:
- Oncogene, 2004, v. 23, n. 14, p. 2582, doi. 10.1038/sj.onc.1207367
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- Publication type:
- Article
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18723-y
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- Publication type:
- Article
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-13624-1
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- Publication type:
- Article
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0498-x
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- Publication type:
- Article
A family study implicates GBE1 in the etiology of autism spectrum disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 16, doi. 10.1002/humu.24289
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- Publication type:
- Article
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 2, p. 323, doi. 10.1002/ana.24457
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- Publication type:
- Article
Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.
- Published in:
- 2016
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- Publication type:
- journal article
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
- Published in:
- Nature, 2012, v. 485, n. 7397, p. 246, doi. 10.1038/nature10989
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- Publication type:
- Article
MD-SeeGH: a platform for integrative analysis of multi-dimensional genomic data.
- Published in:
- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-243
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- Publication type:
- Article
SeeGH -- A software tool for visualization of whole genome array comparative genomic hybridization data.
- Published in:
- BMC Bioinformatics, 2004, v. 5, p. 13, doi. 10.1186/1471-2105-5-13
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- Publication type:
- Article
De novo genic mutations among a Chinese autism spectrum disorder cohort.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13316, doi. 10.1038/ncomms13316
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- Publication type:
- Article
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 12989, doi. 10.1038/ncomms12989
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- Publication type:
- Article
Genomic Deregulation of the E2F/Rb Pathway Leads to Activation of the Oncogene EZH2 in Small Cell Lung Cancer.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071670
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- Publication type:
- Article
Germline DNA Copy Number Aberrations Identified as Potential Prognostic Factors for Breast Cancer Recurrence.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053850
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- Publication type:
- Article
Divergent Genomic and Epigenomic Landscapes of Lung Cancer Subtypes Underscore the Selection of Different Oncogenic Pathways during Tumor Development.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037775
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- Publication type:
- Article
Transcriptome Profiles of Carcinoma-in-Situ and Invasive Non-Small Cell Lung Cancer as Revealed by SAGE.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009162
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- Publication type:
- Article
A tiling resolution DNA microarray with complete coverage of the human genome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 299, doi. 10.1038/ng1307
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- Publication type:
- Article
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002334
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- Publication type:
- Article
Gain of a region on 7p22.3, containing MAD1L1, is the most frequent event in small‐cell lung cancer cell lines.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 1, p. 11, doi. 10.1002/gcc.20260
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- Publication type:
- Article
High-resolution chromosome arm 5p array CGH analysis of small cell lung carcinoma cell lines.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 3, p. 308, doi. 10.1002/gcc.20137
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- Publication type:
- Article
Novel regions of amplification on 8q distinct from the MYC locus and frequently altered in oral dysplasia and cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 39, n. 1, p. 93, doi. 10.1002/gcc.10294
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- Publication type:
- Article
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
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- Publication type:
- Article
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 381, doi. 10.1002/ajmg.b.32527
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- Publication type:
- Article
Excess of rare, inherited truncating mutations in autism.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 582, doi. 10.1038/ng.3303
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- Publication type:
- Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
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- Publication type:
- Article
Corrigendum: A copy number variation morbidity map of developmental delay.
- Published in:
- Nature Genetics, 2014, v. 46, n. 9, p. 1040, doi. 10.1038/ng0914-1040a
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- Publication type:
- Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
- Published in:
- Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
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- Publication type:
- Article
A copy number variation morbidity map of developmental delay.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 838, doi. 10.1038/ng.909
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- Publication type:
- Article
Integrative Genomic Analyses Identify BRF2 as a Novel Lineage-Specific Oncogene in Lung Squamous Cell Carcinoma.
- Published in:
- PLoS Medicine, 2010, v. 7, n. 7, p. 1, doi. 10.1371/journal.pmed.1000315
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- Publication type:
- Article
Integrating the multiple dimensions of genomic and epigenomic landscapes of cancer.
- Published in:
- Cancer & Metastasis Reviews, 2010, v. 29, n. 1, p. 73, doi. 10.1007/s10555-010-9199-2
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- Publication type:
- Article
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
- Published in:
- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0247-z
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- Publication type:
- Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075
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- Publication type:
- Article
Evolving strategies for global gene expression analysis of cancer.
- Published in:
- Journal of Cellular Physiology, 2008, v. 217, n. 3, p. 590, doi. 10.1002/jcp.21554
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- Publication type:
- Article
FACADE: a fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 15, p. e157, doi. 10.1093/nar/gkq548
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- Publication type:
- Article
Whole genome tiling path array CGH analysis of segmental copy number alterations in cervical cancer cell lines.
- Published in:
- International Journal of Cancer, 2007, v. 120, n. 2, p. 436, doi. 10.1002/ijc.22335
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- Publication type:
- Article
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 25, doi. 10.1186/1755-8794-4-25
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- Publication type:
- Article
A sequence-based approach to identify reference genes for gene expression analysis.
- Published in:
- BMC Medical Genomics, 2010, v. 3, p. 32, doi. 10.1186/1755-8794-3-32
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- Publication type:
- Article
An integrative multi-dimensional genetic and epigenetic strategy to identify aberrant genes and pathways in cancer.
- Published in:
- BMC Systems Biology, 2010, v. 4, p. 67, doi. 10.1186/1752-0509-4-67
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- Publication type:
- Article
Integrative genomic and gene expression analysis of chromosome 7 identified novel oncogene loci in non-small cell lung cancer.
- Published in:
- Genome, 2008, v. 51, n. 12, p. 1032, doi. 10.1139/G08-086
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- Publication type:
- Article
Large fragment Bst DNA polymerase for whole genome amplification of DNA from formalin-fixed paraffin-embedded tissues.
- Published in:
- BMC Genomics, 2006, v. 7, p. 1
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- Publication type:
- Article
SIGMA: A System for Integrative Genomic Microarray Analysis of Cancer Genomes.
- Published in:
- BMC Genomics, 2006, v. 7, p. 324, doi. 10.1186/1471-2164-7-324
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- Publication type:
- Article