Published in Genet Test Mol Biomarkers on December 01, 2009
MLPA for confirmation of array CGH results and determination of inheritance. Mol Cytogenet (2010) 1.02
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Mol Vis (2011) 0.92
Genomic profile of copy number variants on the short arm of human chromosome 8. Eur J Hum Genet (2010) 0.87
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations. Mol Cytogenet (2013) 0.85
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. Eur J Hum Genet (2013) 0.85
Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature. Curr Genomics (2011) 0.84
Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot. PLoS One (2014) 0.82
Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content. BMC Genomics (2014) 0.80
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A (2008) 1.96
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics (2004) 1.81
Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome. Am J Med Genet A (2007) 1.51
Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet A (2007) 1.40
Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected]. Genet Med (2003) 1.38
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics (2006) 1.36
Clear cell sarcoma of tendons and aponeuroses: a review. Arch Pathol Lab Med (2007) 1.35
Guidance for fluorescence in situ hybridization testing in hematologic disorders. J Mol Diagn (2007) 1.20
Proteomic analysis to identify breast cancer biomarkers in nipple aspirate fluid. Clin Cancer Res (2004) 1.19
Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? J Autism Dev Disord (2004) 1.14
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects. BMC Med Genomics (2011) 1.07
Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test (2007) 1.07
Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol (2009) 1.07
Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A (2007) 1.06
Noncoding RNA expression in myocardium from infants with tetralogy of Fallot. Circ Cardiovasc Genet (2012) 1.05
Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med (2007) 1.04
A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet A (2006) 1.03
Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome. J Pediatr Endocrinol Metab (2004) 0.98
Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer (2007) 0.96
Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med (2006) 0.95
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics (2005) 0.93
Sphingosine kinase regulates the sensitivity of Dictyostelium discoideum cells to the anticancer drug cisplatin. Eukaryot Cell (2005) 0.93
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes. Am J Med Genet A (2010) 0.91
Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probes. Arch Pathol Lab Med (2002) 0.91
X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A (2007) 0.91
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A (2007) 0.89
HER-2 fluorescence in situ hybridization: results from the survey program of the College of American Pathologists. Arch Pathol Lab Med (2006) 0.87
Overexpression of sphingosine-1-phosphate lyase or inhibition of sphingosine kinase in Dictyostelium discoideum results in a selective increase in sensitivity to platinum-based chemotherapy drugs. Eukaryot Cell (2004) 0.87
Expression and regulation of nampt in human islets. PLoS One (2013) 0.83
Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. Int J Mol Med (2005) 0.82
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay. Eur J Med Genet (2010) 0.81
Higher dose imatinib for children with de novo chronic phase chronic myelogenous leukemia: a report from the Children's Oncology Group. Pediatr Blood Cancer (2011) 0.81
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome. Eur J Hum Genet (2013) 0.80
Proteomics of canine lymphoma identifies potential cancer-specific protein markers. Clin Cancer Res (2007) 0.80
Pleiotropic functions of pre-B-cell colony-enhancing factor (PBEF) revealed by transcriptomics of human pulmonary microvascular endothelial cells treated with PBEFsiRNA. Genes Cells (2012) 0.79
A tissue-specific gene expression template portrays heart development and pathology. Hum Genomics (2014) 0.78
Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization. Am J Med Genet A (2008) 0.77
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. Am J Med Genet A (2010) 0.77
TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes. J Neurodev Disord (2010) 0.76
C-reactive protein levels in subjects with Prader-Willi syndrome and obesity. Genet Med (2006) 0.76
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia. Case Rep Endocrinol (2013) 0.75
Spitzoid melanoma in a child with Li-Fraumeni syndrome. Pediatr Dev Pathol (2013) 0.75