DNA Copy Number Variations

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  Subject Areas on Research

  • A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. 
  • A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. 
  • A genome-wide scan for common alleles affecting risk for autism. 
  • A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. 
  • A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. 
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 
  • A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. 
  • ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 
  • An evaluation of copy number variation detection tools from whole-exome sequencing data. 
  • An integrative approach identified genes associated with drug response in gastric cancer. 
  • Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism. 
  • Association of a Novel Mutation in the Plasmodium falciparum Chloroquine Resistance Transporter With Decreased Piperaquine Sensitivity. 
  • Bayesian joint analysis of heterogeneous genomics data. 
  • Behavior genetics and postgenomics. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. 
  • Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. 
  • Confirmation of TBK1 duplication in normal tension glaucoma. 
  • Contributions of Mamu-A*01 status and TRIM5 allele expression, but not CCL3L copy number variation, to the control of SIVmac251 replication in Indian-origin rhesus monkeys. 
  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 
  • Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest. 
  • Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. 
  • Copy number variation of KIR genes influences HIV-1 control. 
  • Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 
  • Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer. 
  • DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. 
  • De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer. 
  • Differential copy number aberrations in novel candidate genes associated with progression from in situ to invasive ductal carcinoma of the breast. 
  • Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. 
  • Erythropoietin receptor contributes to melanoma cell survival in vivo. 
  • Evidence for involvement of GNB1L in autism. 
  • Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. 
  • Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas. 
  • From the Cover: Arsenite Uncouples Mitochondrial Respiration and Induces a Warburg-like Effect in Caenorhabditis elegans. 
  • Functional impact of global rare copy number variation in autism spectrum disorders. 
  • Gene copy-number variation in haploid and diploid strains of the yeast Saccharomyces cerevisiae. 
  • General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations. 
  • Genetic architecture of reciprocal CNVs. 
  • Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. 
  • Genome-wide association identifies diverse causes of common variable immunodeficiency. 
  • Genome-wide scan of copy number variation in late-onset Alzheimer's disease. 
  • Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. 
  • Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. 
  • Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Integrating common and rare genetic variation in diverse human populations. 
  • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 
  • Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers. 
  • Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence. 
  • Loss of δ-catenin function in severe autism. 
  • Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity. 
  • Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. 
  • Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. 
  • New clues to the molecular pathogenesis of Burkitt lymphoma revealed through next-generation sequencing. 
  • PCR-Based Analysis of Mitochondrial DNA Copy Number, Mitochondrial DNA Damage, and Nuclear DNA Damage. 
  • Quantitative PCR-based measurement of nuclear and mitochondrial DNA damage and repair in mammalian cells. 
  • Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 
  • Risk factors for autism: translating genomic discoveries into diagnostics. 
  • Robust regression analysis of copy number variation data based on a univariate score. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • SgD-CNV, a database for common and rare copy number variants in three Asian populations. 
  • Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 
  • Systematic interrogation of 3q26 identifies TLOC1 and SKIL as cancer drivers. 
  • The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 
  • The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. 
  • The LINK-A lncRNA interacts with PtdIns(3,4,5)P3 to hyperactivate AKT and confer resistance to AKT inhibitors. 
  • The characterization of twenty sequenced human genomes. 
  • The genetic landscape of the childhood cancer medulloblastoma. 
  • The genomic relationship between primary breast carcinomas and their nodal metastases. 
  • The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. 
  • The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma. 
  • Using ERDS to infer copy-number variants in high-coverage genomes. 
  • Validation of an oligo-gene signature for the prognostic stratification of ductal carcinoma in situ (DCIS). 
  • Variation in chromosome copy number influences the virulence of Cryptococcus neoformans and occurs in isolates from AIDS patients. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
  • cnvCapSeq: detecting copy number variation in long-range targeted resequencing data. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology