Published in Hum Genet on February 16, 2010
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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet (2011) 1.04
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Screening by chest radiograph and lung cancer mortality: the Prostate, Lung, Colorectal, and Ovarian (PLCO) randomized trial. JAMA (2011) 6.45
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A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development (2006) 2.90
Ablation of PGC-1beta results in defective mitochondrial activity, thermogenesis, hepatic function, and cardiac performance. PLoS Biol (2006) 2.86
MyoD targets TAF3/TRF3 to activate myogenin transcription. Mol Cell (2008) 2.78
High-throughput identification of transcription start sites, conserved promoter motifs and predicted regulons. Nat Biotechnol (2007) 2.57
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
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Reduced cardiac efficiency and altered substrate metabolism precedes the onset of hyperglycemia and contractile dysfunction in two mouse models of insulin resistance and obesity. Endocrinology (2005) 2.43
Genetic variability of Yersinia pestis isolates as predicted by PCR-based IS100 genotyping and analysis of structural genes encoding glycerol-3-phosphate dehydrogenase (glpD). J Bacteriol (2002) 2.41
Baseline chest radiograph for lung cancer detection in the randomized Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. J Natl Cancer Inst (2005) 2.24
Dandruff-associated Malassezia genomes reveal convergent and divergent virulence traits shared with plant and human fungal pathogens. Proc Natl Acad Sci U S A (2007) 2.18
PP2B and PP1alpha cooperatively disrupt 7SK snRNP to release P-TEFb for transcription in response to Ca2+ signaling. Genes Dev (2008) 2.15
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A (2004) 2.10
Complete genome sequence of Yersinia pestis strains Antiqua and Nepal516: evidence of gene reduction in an emerging pathogen. J Bacteriol (2006) 2.08
Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A (2010) 2.03
Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet (2002) 2.02
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet (2005) 1.89
Subnuclear segregation of genes and core promoter factors in myogenesis. Genes Dev (2011) 1.88
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain (2007) 1.76
Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol (2004) 1.69
Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58
The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.57
Diagnosis and management of fragile X syndrome. Am Fam Physician (2005) 1.57
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet (2002) 1.50
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am J Hum Genet (2004) 1.49
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48
Closing in on the C. elegans ORFeome by cloning TWINSCAN predictions. Genome Res (2005) 1.48
High efficacy of clonal growth and expansion of adult neural stem cells. Lab Invest (2003) 1.47
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A (2011) 1.44
[Investigation of multifocal electroretinogram in amblyopia]. Zhonghua Yan Ke Za Zhi (2004) 1.44
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet (2008) 1.43
Clinical relevance of the TLR4 11367 polymorphism in patients with major trauma. Arch Surg (2009) 1.42
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. Am J Med Genet A (2006) 1.40
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
In vivo optical imaging of neurogenesis: watching new neurons in the intact brain. Mol Imaging (2008) 1.34
The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. Proc Natl Acad Sci U S A (2002) 1.34
Adult neural progenitor cell grafts survive after acute spinal cord injury and integrate along axonal pathways. Eur J Neurosci (2003) 1.34
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A (2008) 1.32
Alpha-synuclein alters Notch-1 expression and neurogenesis in mouse embryonic stem cells and in the hippocampus of transgenic mice. J Neurosci (2008) 1.32
Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly. J Cell Biol (2002) 1.31
Lung cancer screening in the randomized Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. J Natl Cancer Inst (2010) 1.29
Evidence for inheritance in patients with VACTERL association. Hum Genet (2010) 1.29
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet (2002) 1.28
Targeted transgene expression in neuronal precursors: watching young neurons in the old brain. Eur J Neurosci (2006) 1.26
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet (2011) 1.25
Cloning and characterization of a novel gene, SHPRH, encoding a conserved putative protein with SNF2/helicase and PHD-finger domains from the 6q24 region. Genomics (2003) 1.25
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol (2012) 1.24
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat (2009) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn (2013) 1.22
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
The "most wanted" taxa from the human microbiome for whole genome sequencing. PLoS One (2012) 1.21
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet (2008) 1.19
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. Eur J Pediatr (2004) 1.18
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J Am Acad Child Adolesc Psychiatry (2008) 1.17
Maternal genome-wide DNA methylation patterns and congenital heart defects. PLoS One (2011) 1.16
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing. PLoS One (2013) 1.15
Metabonomic study of Chinese medicine Shuanglong formula as an effective treatment for myocardial infarction in rats. J Proteome Res (2010) 1.15
Novel protective properties of IGFBP-3 result in enhanced pericyte ensheathment, reduced microglial activation, increased microglial apoptosis, and neuronal protection after ischemic retinal injury. Am J Pathol (2011) 1.12
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry (2006) 1.12
Potential role of microRNA-21 in the diagnosis of gastric cancer: a meta-analysis. PLoS One (2013) 1.11
Comparative genomics of "Dehalococcoides ethenogenes" 195 and an enrichment culture containing unsequenced "Dehalococcoides" strains. Appl Environ Microbiol (2008) 1.10
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
Impaired insulin signaling accelerates cardiac mitochondrial dysfunction after myocardial infarction. J Mol Cell Cardiol (2009) 1.09
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association. Congenit Anom (Kyoto) (2011) 1.08