Published in Clin Dysmorphol on April 01, 2013
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med (2013) 2.91
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet (2013) 2.62
Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques. Science (2007) 2.62
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Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology (2009) 2.03
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet (2013) 1.66
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Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res (2013) 1.44
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet (2009) 1.40
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Decreased indicators of lung injury with continuous positive expiratory pressure in preterm lambs. Pediatr Res (2002) 1.38
High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics (2009) 1.31
miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet (2012) 1.31
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A (2010) 1.31
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet (2012) 1.31
Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Res (2010) 1.26
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A. Genome Announc (2013) 1.17
PDX-1 acts as a potential molecular target for treatment of human pancreatic cancer. Pancreas (2008) 1.17
Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development (2005) 1.17
Alterations in white matter pathways in Angelman syndrome. Dev Med Child Neurol (2010) 1.17
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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet (2013) 1.13
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A requirement for dimerization of HP1Hsalpha in suppression of breast cancer invasion. J Biol Chem (2006) 1.08
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat (2012) 1.07
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Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06
Two-stage genome-wide association study identifies integrin beta 5 as having potential role in bull fertility. BMC Genomics (2009) 1.06
Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A (2004) 1.05
Intra-amniotic injection of IL-1 induces inflammation and maturation in fetal sheep lung. Am J Physiol Lung Cell Mol Physiol (2002) 1.04
Accurate identification of novel human genes through simultaneous gene prediction in human, mouse, and rat. Genome Res (2004) 1.03
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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord (2007) 1.03
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet (2013) 1.00
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet (2010) 1.00
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med (2012) 0.99
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn (2012) 0.98
Oxidative stress in fetal lambs exposed to intra-amniotic endotoxin in a chorioamnionitis model. Pediatr Res (2008) 0.98
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet (2012) 0.98
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. Am J Med Genet A (2010) 0.97
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet (2013) 0.97
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet (2010) 0.97
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A (2010) 0.96
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet (2014) 0.96
Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). BMC Genomics (2011) 0.96
Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab (2010) 0.95
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A (2012) 0.95
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A (2011) 0.94
Thymic changes after chorioamnionitis induced by intraamniotic lipopolysaccharide in fetal sheep. Am J Obstet Gynecol (2010) 0.94
PDX-1: demonstration of oncogenic properties in pancreatic cancer. Cancer (2010) 0.94
Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A (2011) 0.94