Published in Hum Mol Genet on July 15, 2003
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet (2005) 2.54
American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med (2005) 1.74
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet (2009) 1.46
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet (2016) 1.06
High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH). Am J Med Genet A (2009) 1.05
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet (2014) 1.03
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum Genet (2006) 0.99
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet (2009) 0.98
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet (2015) 0.95
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet (2012) 0.94
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. Mol Cytogenet (2008) 0.93
Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet (2014) 0.91
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions. Chromosome Res (2004) 0.89
Tandem repeats and G-rich sequences are enriched at human CNV breakpoints. PLoS One (2014) 0.86
Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res (2006) 0.85
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J Med Genet (2006) 0.84
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet (2008) 0.81
Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genomic Med (2013) 0.79
Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres. Cell Chromosome (2008) 0.79
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells. Clin Immunol (2008) 0.75
Terminal 18q deletions are stabilized by neotelomeres. Mol Cytogenet (2015) 0.75
Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH. Appl Clin Genet (2012) 0.75
The Growing Complexity of the Monosomy 1p36 Syndrome. Mol Syndromol (2016) 0.75
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. Dis Markers (2014) 0.75
Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science (2009) 10.78
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Regulation of cellular metabolism by protein lysine acetylation. Science (2010) 10.55
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
A dual PI3 kinase/mTOR inhibitor reveals emergent efficacy in glioma. Cancer Cell (2006) 6.15
PTEN-mediated apical segregation of phosphoinositides controls epithelial morphogenesis through Cdc42. Cell (2007) 5.84
Sirt3 mediates reduction of oxidative damage and prevention of age-related hearing loss under caloric restriction. Cell (2010) 5.73
Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol (2007) 5.48
Randomized phase II trial of Onartuzumab in combination with erlotinib in patients with advanced non-small-cell lung cancer. J Clin Oncol (2013) 5.21
A navigator for human genome epidemiology. Nat Genet (2008) 5.07
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell (2007) 4.06
Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol (2004) 3.94
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science (2011) 3.49
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell (2011) 3.27
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Phase I study of trastuzumab-DM1, an HER2 antibody-drug conjugate, given every 3 weeks to patients with HER2-positive metastatic breast cancer. J Clin Oncol (2010) 3.06
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Defective cardiovascular development and elevated cyclin E and Notch proteins in mice lacking the Fbw7 F-box protein. Proc Natl Acad Sci U S A (2004) 2.66
A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res (2013) 2.63
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Calorie restriction and SIRT3 trigger global reprogramming of the mitochondrial protein acetylome. Mol Cell (2012) 2.54
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52
Circadian clock NAD+ cycle drives mitochondrial oxidative metabolism in mice. Science (2013) 2.49
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A (2005) 2.44
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr (2006) 2.41
Phosphatidylinositol-3,4,5-trisphosphate regulates the formation of the basolateral plasma membrane in epithelial cells. Nat Cell Biol (2006) 2.39
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Tracking the epidemiology of human genes in the literature: the HuGE Published Literature database. Am J Epidemiol (2006) 2.34
Epithelial polarity and tubulogenesis in vitro. Trends Cell Biol (2003) 2.31
Sirt3 promotes the urea cycle and fatty acid oxidation during dietary restriction. Mol Cell (2011) 2.29
Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression. Am J Physiol Heart Circ Physiol (2007) 2.17
Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. Am J Epidemiol (2009) 2.15
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One (2010) 2.14
Cell-polarity dynamics controls the mechanism of lumen formation in epithelial morphogenesis. Curr Biol (2008) 2.13
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet (2009) 2.00
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood (2006) 1.98
The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids. J Biol Chem (2006) 1.94
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
The associations between race and geographic area and quality-of-care indicators in patients approaching ESRD. Clin J Am Soc Nephrol (2013) 1.87
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics. Blood (2014) 1.81
Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn (2006) 1.79
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
The SOX2 response program in glioblastoma multiforme: an integrated ChIP-seq, expression microarray, and microRNA analysis. BMC Genomics (2011) 1.79
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies. Eur J Hum Genet (2011) 1.69
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis (2011) 1.67
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res (2008) 1.66
Managed care, hospice use, site of death, and medical expenditures in the last year of life. Arch Intern Med (2002) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Tumor-induced osteomalacia: an important cause of adult-onset hypophosphatemic osteomalacia in China: Report of 39 cases and review of the literature. J Bone Miner Res (2012) 1.63
Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet (2007) 1.63
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med (2006) 1.63
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res (2003) 1.62
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Morphological and biochemical analysis of Rac1 in three-dimensional epithelial cell cultures. Methods Enzymol (2006) 1.59
Age structure changes and extraordinary lifespan in wild medfly populations. Aging Cell (2008) 1.57
Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets. J Biol Chem (2005) 1.56
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med (2009) 1.55
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One (2009) 1.54
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet (2007) 1.52
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord (2010) 1.51
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51
Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. PLoS Genet (2006) 1.51
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. Genet Med (2012) 1.49
Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein. J Cell Biol (2004) 1.47
Subepicardial endothelial cells invade the embryonic ventricle wall to form coronary arteries. Cell Res (2013) 1.46
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet (2006) 1.45
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45