Published in Am J Med Genet A on November 01, 2008
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. Mol Genet Genomics (2014) 0.80
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2). J Hum Genet (2014) 0.79
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Mol Genet Genomics (2015) 0.78
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics (2014) 0.75
Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication. Appl Clin Genet (2016) 0.75
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
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev (2009) 5.53
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
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science (2006) 3.96
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
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
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
Advocacy groups as research organizations: the PXE International example. Nat Rev Genet (2007) 2.72
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
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
Optical methodology for detecting histologically unapparent nanoscale consequences of genetic alterations in biological cells. Proc Natl Acad Sci U S A (2008) 2.33
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
UCA1, a non-protein-coding RNA up-regulated in bladder carcinoma and embryo, influencing cell growth and promoting invasion. FEBS Lett (2008) 2.14
The anterior cruciate ligament remnant: to leave it or not? Arthroscopy (2013) 2.13
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Confocal microwave imaging for breast cancer detection: localization of tumors in three dimensions. IEEE Trans Biomed Eng (2002) 2.01
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
Emerging strategies of lignin engineering and degradation for cellulosic biofuel production. Curr Opin Biotechnol (2008) 1.85
Elastic backscattering spectroscopic microscopy. Opt Lett (2005) 1.84
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
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
CD44+ CD133+ population exhibits cancer stem cell-like characteristics in human gallbladder carcinoma. Cancer Biol Ther (2010) 1.68
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Long non-coding RNA UCA1 regulated cell cycle distribution via CREB through PI3-K dependent pathway in bladder carcinoma cells. Gene (2012) 1.64
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med (2008) 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
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. PLoS One (2007) 1.56
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med (2009) 1.55
Prevention of chylothorax complicating extensive esophageal resection by mass ligation of thoracic duct: a random control study. Ann Thorac Surg (2011) 1.55
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One (2009) 1.54
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
A Phantom Study of Magnetoacoustic Tomography with Magnetic Induction (MAT-MI) for Imaging Electrical Impedance of Biological Tissue. J Appl Phys (2006) 1.48
Long non-coding RNA UCA1a(CUDR) promotes proliferation and tumorigenesis of bladder cancer. Int J Oncol (2012) 1.45
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 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
Retracted A meta-analysis of external fixator versus intramedullary nails for open tibial fracture fixation. J Orthop Surg Res (2014) 1.42
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Experimental and clinical observations of 99mTc-MIBI uptake correlate with P-glycoprotein expression in lung cancer. Nucl Med Commun (2007) 1.41
Magnetoacoustic tomographic imaging of electrical impedance with magnetic induction. Appl Phys Lett (2007) 1.41
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn (2010) 1.40
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A (2006) 1.39
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
Convergent evolution of syringyl lignin biosynthesis via distinct pathways in the lycophyte Selaginella and flowering plants. Plant Cell (2010) 1.38
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med (2009) 1.36
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med (2010) 1.36
Stenotrophomonas maltophilia resistance to trimethoprim/sulfamethoxazole mediated by acquisition of sul and dfrA genes in a plasmid-mediated class 1 integron. Int J Antimicrob Agents (2011) 1.35
Estimation of oxygen saturation from erythrocytes by high-resolution spectroscopic optical coherence tomography. Opt Lett (2010) 1.35
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet (2010) 1.34
Identification of p21WAF1/CIP1 as a direct target of EWS-Fli1 oncogenic fusion protein. J Biol Chem (2003) 1.34
Independent origins of syringyl lignin in vascular plants. Proc Natl Acad Sci U S A (2008) 1.31
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
Self-assembled supramolecular hydrogels formed by biodegradable PEO-PHB-PEO triblock copolymers and alpha-cyclodextrin for controlled drug delivery. Biomaterials (2006) 1.26
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A (2011) 1.24
PTPN14 is required for the density-dependent control of YAP1. Genes Dev (2012) 1.23
Structural basis for coronavirus-mediated membrane fusion. Crystal structure of mouse hepatitis virus spike protein fusion core. J Biol Chem (2004) 1.22
Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol (2007) 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
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
3D current source density imaging based on the acoustoelectric effect: a simulation study using unipolar pulses. Phys Med Biol (2011) 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
Long non-coding RNA UCA1 promotes glycolysis by upregulating hexokinase 2 through the mTOR-STAT3/microRNA143 pathway. Cancer Sci (2014) 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
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
TAZ induces growth factor-independent proliferation through activation of EGFR ligand amphiregulin. Cell Cycle (2012) 1.15
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
Defining the protein-protein interaction network of the human hippo pathway. Mol Cell Proteomics (2013) 1.14
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn (2006) 1.14
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum Mol Genet (2009) 1.13
Urothelial carcinoma associated 1 is a hypoxia-inducible factor-1α-targeted long noncoding RNA that enhances hypoxic bladder cancer cell proliferation, migration, and invasion. Tumour Biol (2014) 1.13
microRNA-148a suppresses human gastric cancer cell metastasis by reversing epithelial-to-mesenchymal transition. Tumour Biol (2013) 1.12
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. Methods Enzymol (2008) 1.12
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
Analysis of point mutation in site 1896 of HBV precore and its detection in the tissues and serum of HCC patients. World J Gastroenterol (2000) 1.11