scholarly article | Q13442814 |
P2093 | author name string | Tamim H Shaikh | |
P2860 | cites work | Initial sequencing and analysis of the human genome | Q21045365 |
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives | Q21284304 | ||
Structural variation in the human genome | Q22122017 | ||
Mapping and sequencing of structural variation from eight human genomes | Q22122215 | ||
Rare chromosomal deletions and duplications increase risk of schizophrenia | Q22337245 | ||
Mapping copy number variation by population-scale genome sequencing | Q24615307 | ||
Strong association of de novo copy number mutations with autism | Q24633543 | ||
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Q24647145 | ||
Large recurrent microdeletions associated with schizophrenia | Q24654741 | ||
Structural variation of chromosomes in autism spectrum disorder | Q24656970 | ||
Global variation in copy number in the human genome | Q24658083 | ||
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype | Q24683002 | ||
Mechanisms underlying structural variant formation in genomic disorders | Q26765934 | ||
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns | Q26859057 | ||
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | Q27014740 | ||
Structural variation mutagenesis of the human genome: Impact on disease and evolution | Q27691419 | ||
alpha-Synuclein locus triplication causes Parkinson's disease | Q27860533 | ||
CNVs in neuropsychiatric disorders | Q28083143 | ||
Detection of large-scale variation in the human genome | Q28131803 | ||
Segmental duplications and copy-number variation in the human genome | Q28253048 | ||
Non-homologous end-joining, a sticky affair | Q28260337 | ||
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders | Q28262802 | ||
Large-scale copy number polymorphism in the human genome | Q28273726 | ||
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia | Q28274064 | ||
Identification of a DNA nonhomologous end-joining complex in bacteria | Q28486519 | ||
Origins and functional impact of copy number variation in the human genome | Q28730507 | ||
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
CNVs conferring risk of autism or schizophrenia affect cognition in controls | Q29308426 | ||
Recent segmental duplications in the human genome | Q29616016 | ||
A copy number variation morbidity map of developmental delay | Q29616033 | ||
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. | Q33480832 | ||
Genomic investigation of alpha-synuclein multiplication and parkinsonism | Q37362778 | ||
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing | Q37397640 | ||
Accurate and objective copy number profiling using real-time quantitative PCR. | Q37671069 | ||
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis | Q37717971 | ||
Correlating multiallelic copy number polymorphisms with disease susceptibility | Q38029978 | ||
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data | Q38602860 | ||
Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution | Q39915256 | ||
High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts | Q40658284 | ||
High Copy Numbers of β-Defensin Cluster on 8p23.1, Confer Genetic Susceptibility, and Modulate the Physical Course of Hidradenitis Suppurativa/Acne Inversa | Q40680427 | ||
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. | Q41301461 | ||
Low DEFB4 copy number and high systemic hBD-2 and IL-22 levels are associated with dermatophytosis | Q41759033 | ||
Mutational mechanisms of Williams-Beuren syndrome deletions | Q41897140 | ||
Cohen syndrome diagnosis using whole genome arrays | Q41936251 | ||
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants | Q41936282 | ||
The impact of structural variation on human gene expression | Q42290431 | ||
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture | Q43168469 | ||
Extended tracts of homozygosity in outbred human populations | Q46155058 | ||
Inference of Causative Genes for Alzheimer's Disease Due to Dosage Imbalance. | Q48217671 | ||
Human copy number variation and complex genetic disease. | Q50309527 | ||
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. | Q50313705 | ||
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. | Q54445819 | ||
Common deletion polymorphisms in the human genome. | Q54618648 | ||
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature | Q57757783 | ||
Long contiguous stretches of homozygosity in the human genome | Q80218672 | ||
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. | Q80808717 | ||
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications | Q83469325 | ||
A high-resolution survey of deletion polymorphism in the human genome | Q94465012 | ||
Structural variation in the human genome and its role in disease | Q33522758 | ||
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies | Q33569995 | ||
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication | Q33669167 | ||
An evaluation of copy number variation detection tools for cancer using whole exome sequencing data | Q33750378 | ||
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay | Q33763087 | ||
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus | Q34319137 | ||
Segmental duplications: an 'expanding' role in genomic instability and disease | Q34389505 | ||
An integrated map of structural variation in 2,504 human genomes | Q34496621 | ||
Primate segmental duplications: crucibles of evolution, diversity and disease | Q34537505 | ||
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Q34556905 | ||
The phenotype of recurrent 10q22q23 deletions and duplications | Q34694730 | ||
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome | Q34733853 | ||
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. | Q34770044 | ||
The Prader-Willi syndrome and the Angelman syndrome. | Q35056664 | ||
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications | Q35075500 | ||
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis | Q35135033 | ||
Detection of clinically relevant exonic copy-number changes by array CGH. | Q35172112 | ||
Copy number variants, aneuploidies, and human disease | Q35694174 | ||
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans | Q35704490 | ||
The genetics of microdeletion and microduplication syndromes: an update. | Q35765523 | ||
The mechanism of non-homologous end-joining: a synopsis of synapsis | Q35893376 | ||
Non-coding genetic variants in human disease | Q36065325 | ||
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome | Q36091184 | ||
Discovery and genotyping of structural variation from long-read haploid genome sequence data. | Q36206150 | ||
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape | Q36343359 | ||
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. | Q36429833 | ||
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy | Q36492215 | ||
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats | Q36848387 | ||
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series | Q36854788 | ||
22q11.2 deletion syndrome | Q36988231 | ||
MLPA and MAPH: sensitive detection of deletions and duplications | Q37144406 | ||
Increased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews | Q37195015 | ||
Segmental duplications mediate novel, clinically relevant chromosome rearrangements | Q37272341 | ||
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease | Q37318174 | ||
P433 | issue | 4 | |
P304 | page(s) | 183-190 | |
P577 | publication date | 2017-10-14 | |
P1433 | published in | Current genetic medicine reports | Q27724648 |
P1476 | title | Copy Number Variation Disorders | |
P478 | volume | 5 |
Q64053721 | Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro |
Q94572507 | Applications of molecular networks in biomedicine |
Q102369198 | ClassifyCNV: a tool for clinical annotation of copy-number variants |
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