Published in Am J Med Genet A on April 01, 2003
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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
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Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature (2004) 2.90
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
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
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 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
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
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Beta-peptidic peptidomimetics. Acc Chem Res (2008) 2.01
Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol (2006) 1.97
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
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
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
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell (2008) 1.70
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
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
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med (2009) 1.55
The Prevention of Recurrent Episodes of Depression with Venlafaxine for Two Years (PREVENT) Study: Outcomes from the 2-year and combined maintenance phases. J Clin Psychiatry (2007) 1.54
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One (2009) 1.54
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population. Sleep Med (2011) 1.53
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
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
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45
Candidate pathway-based genome-wide association studies identify novel associations of genomic variants in the complement system associated with coronary artery disease. Circ Cardiovasc Genet (2014) 1.45
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet (2011) 1.43
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Prevention of recurrent episodes of depression with venlafaxine ER in a 1-year maintenance phase from the PREVENT Study. J Clin Psychiatry (2007) 1.40
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn (2010) 1.40
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat Genet (2001) 1.39
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med (2010) 1.36
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med (2009) 1.36
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet (2009) 1.30
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn (2009) 1.30
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet (2003) 1.30
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn (2009) 1.29
Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet (2008) 1.27
Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1. J Pharmacol Exp Ther (2006) 1.26
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res (2002) 1.26
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Bmal1 and β-cell clock are required for adaptation to circadian disruption, and their loss of function leads to oxidative stress-induced β-cell failure in mice. Mol Cell Biol (2013) 1.22
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med (2011) 1.22
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. Am J Med Genet A (2011) 1.21
The clinical utility of enhanced subtelomeric coverage in array CGH. Am J Med Genet A (2007) 1.20
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. Chromosome Res (2005) 1.20
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet (2004) 1.18
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Hum Mol Genet (2002) 1.17
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet (2003) 1.17
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet (2010) 1.16
Genetic basis of intellectual disability. Annu Rev Med (2012) 1.16
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A (2003) 1.14
Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med (2007) 1.14
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn (2006) 1.14
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A (2008) 1.12
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A (2010) 1.11
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Genome Res (2008) 1.10