Published in Curr Genomics on September 01, 2010
Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res (2012) 1.24
4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. Eur J Pediatr (2011) 0.84
Assessment of copy number variations in the brain genome of schizophrenia patients. Mol Cytogenet (2015) 0.83
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. BMC Genomics (2015) 0.82
Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet (2016) 0.79
Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans. Heredity (Edinb) (2013) 0.78
De novo copy number variations in cloned dogs from the same nuclear donor. BMC Genomics (2013) 0.76
A Dishful of a Troubled Mind: Induced Pluripotent Stem Cells in Psychiatric Research. Stem Cells Int (2015) 0.75
Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest. BMC Genomics (2016) 0.75
Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress. F1000Res (2016) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat (2008) 2.30
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet (2009) 2.07
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
Extensive genomic copy number variation in embryonic stem cells. Proc Natl Acad Sci U S A (2008) 1.91
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics (2008) 1.76
Steps involved in immortalization and tumorigenesis in human B-lymphoblastoid cell lines transformed by Epstein-Barr virus. Cancer Res (2004) 1.60
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains. Nat Genet (2005) 1.42
Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One (2010) 1.32
Chromosomal mosaicism goes global. Mol Cytogenet (2008) 1.30
Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. Int Rev Cytol (2006) 1.28
Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. Int J Mol Med (2008) 1.00
What a difference copy number variation makes. Bioessays (2007) 0.91
In situ genetic analysis of cellular chimerism. Nat Med (2009) 0.90
Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome. Eur J Med Genet (2009) 0.87
Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med (2002) 2.74
Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One (2007) 1.98
Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med (2007) 1.78
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
Molecular modes of action of artesunate in tumor cell lines. Mol Pharmacol (2003) 1.66
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet (2009) 1.43
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis (2009) 1.39
Two different del(5q) clones in a patient with myelodysplastic syndrome. Leuk Lymphoma (2011) 1.39
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. J Child Neurol (2009) 1.39
Are molecular cytogenetics and bioinformatics suggesting diverging models of ancestral mammalian genomes? Genome Res (2006) 1.38
Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones. Int J Oncol (2010) 1.33
Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One (2010) 1.32
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet (2009) 1.32
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat (2004) 1.25
Human male recombination maps for individual chromosomes. Am J Hum Genet (2004) 1.21
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet (2002) 1.19
Activity of drugs from traditional Chinese medicine toward sensitive and MDR1- or MRP1-overexpressing multidrug-resistant human CCRF-CEM leukemia cells. Blood Cells Mol Dis (2002) 1.17
Microdeletion and microduplication syndromes. J Histochem Cytochem (2012) 1.14
The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res (2007) 1.13
Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding. Int J Mol Med (2003) 1.12
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A (2010) 1.08
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A (2009) 1.07
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol Cytogenet (2008) 1.07
Chromosome distribution in human sperm - a 3D multicolor banding-study. Mol Cytogenet (2008) 1.06
Interphase chromosome-specific multicolor banding (ICS-MCB): a new tool for analysis of interphase chromosomes in their integrity. Biomol Eng (2007) 1.06
Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. Hum Mol Genet (2006) 1.06
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A (2006) 1.04
High-throughput sequencing of microdissected chromosomal regions. Eur J Hum Genet (2009) 1.04
Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem (2011) 1.03
Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet A (2006) 1.02
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet (2005) 1.00
Variation in crossover interference levels on individual chromosomes from human males. Hum Mol Genet (2008) 0.99
Suspension (S)-FISH, a new technique for interphase nuclei. J Histochem Cytochem (2002) 0.99
Novel cryptic chromosomal rearrangements detected in acute lymphoblastic leukemia detected by application of new multicolor fluorescent in situ hybridization approaches. Int J Oncol (2006) 0.99
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A (2006) 0.99
Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up. Childs Nerv Syst (2006) 0.98
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A (2006) 0.97
Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet (2012) 0.97
The DNA-based structure of human chromosome 5 in interphase. Am J Hum Genet (2002) 0.97
A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes. Oncol Lett (2010) 0.97
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes. Am J Obstet Gynecol (2004) 0.96
Centromere activity in dicentric small supernumerary marker chromosomes. Chromosome Res (2010) 0.96
Karyotype evolution in Rhinolophus bats (Rhinolophidae, Chiroptera) illuminated by cross-species chromosome painting and G-banding comparison. Chromosome Res (2007) 0.96
New insights into the karyotypic evolution in muroid rodents revealed by multicolor banding applying murine probes. Chromosome Res (2010) 0.95
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95
A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers. Prenat Diagn (2007) 0.95
A case in Europe of feline histoplasmosis apparently limited to the skin. Vet Dermatol (2013) 0.95
The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet (2010) 0.94
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet (2006) 0.94
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med (2008) 0.93