Published in Hum Mol Genet on August 01, 2003
Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem (2004) 1.68
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum Mol Genet (2003) 1.67
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat (2006) 1.45
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev (2008) 1.44
Palindrome-mediated chromosomal translocations in humans. DNA Repair (Amst) (2006) 1.43
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Molecular cloning of a translocation breakpoint hotspot in 22q11. Genome Res (2007) 1.22
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet (2007) 1.22
Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). Am J Hum Genet (2006) 1.05
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet (2010) 0.97
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells. Hum Mol Genet (2009) 0.86
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res (2007) 0.85
Small supernumerary marker chromosomes and their correlation with specific syndromes. Adv Biomed Res (2015) 0.84
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma. Mol Cancer (2009) 0.84
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum Mol Genet (2010) 0.81
XX male with sex reversal and a de novo 11;22 translocation. Am J Med Genet A (2006) 0.78
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4). Hum Genet (2008) 0.77
Delineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping. Open Genomics J (2009) 0.75
Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs. BMC Genomics (2015) 0.75
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
The medaka draft genome and insights into vertebrate genome evolution. Nature (2007) 5.77
Genome sequence of the ultrasmall unicellular red alga Cyanidioschyzon merolae 10D. Nature (2004) 5.08
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
DMY is a Y-specific DM-domain gene required for male development in the medaka fish. Nature (2002) 4.73
Presence of epidermal growth factor receptor gene T790M mutation as a minor clone in non-small cell lung cancer. Cancer Res (2006) 4.72
Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25
Interleukin-22, a member of the IL-10 subfamily, induces inflammatory responses in colonic subepithelial myofibroblasts. Gastroenterology (2005) 3.65
Identification of eight members of the Argonaute family in the human genome. Genomics (2003) 3.55
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
LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. Mol Cell (2002) 3.36
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes. Proc Natl Acad Sci U S A (2002) 3.20
The relationship between epidermal growth factor receptor mutations and clinicopathologic features in non-small cell lung cancers. Clin Cancer Res (2005) 3.11
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
A unified nomenclature for the superfamily of TRP cation channels. Mol Cell (2002) 2.99
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
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
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet (2007) 2.77
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75
Genomic disorders on 22q11. Am J Hum Genet (2002) 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
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
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
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
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts. Nucleic Acids Res (2007) 2.07
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res (2002) 2.03
Smoke exposure, histologic type and geography-related differences in the methylation profiles of non-small cell lung cancer. Int J Cancer (2003) 2.01
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96
Preoperative localization of small pulmonary lesions with a short hook wire and suture system: experience with 168 procedures. Radiology (2002) 1.96
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet (2004) 1.95
Absence of the candidate male sex-determining gene dmrt1b(Y) of medaka from other fish species. Curr Biol (2003) 1.92
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
DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91
Detection of EGFR gene mutation in lung cancer by mutant-enriched polymerase chain reaction assay. Clin Cancer Res (2006) 1.91
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
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
XAGE-1 expression in non-small cell lung cancer and antibody response in patients. Clin Cancer Res (2005) 1.87
Piccolo, a Ca2+ sensor in pancreatic beta-cells. Involvement of cAMP-GEFII.Rim2. Piccolo complex in cAMP-dependent exocytosis. J Biol Chem (2002) 1.85
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn (2006) 1.79
Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med (2011) 1.79
Endoscopic management of biliary complications after adult living donor liver transplantation. Am J Gastroenterol (2006) 1.78
Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Biochem Biophys Res Commun (2003) 1.77
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet (2013) 1.76
Origin and molecular evolution of the determinant of methicillin resistance in staphylococci. Antimicrob Agents Chemother (2010) 1.74
Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol (2004) 1.72
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet (2007) 1.63
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res (2003) 1.62
Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka. Genome Res (2006) 1.61
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Efficacy and safety of low-pressured and short-time dilation in endoscopic papillary balloon dilation for bile duct stone removal. J Gastroenterol Hepatol (2007) 1.60
Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins. Exp Cell Res (2007) 1.60
Results of the Tokyo trial of prevention of post-ERCP pancreatitis with risperidone-2: a multicenter, randomized, placebo-controlled, double-blind clinical trial. Gastrointest Endosc (2013) 1.58
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet (2002) 1.58
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet (2012) 1.58