Published in Am J Hum Genet on August 13, 2010
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A seasonal switch in histone deacetylase gene expression in the hypothalamus and their capacity to modulate nuclear signaling pathways. Brain Behav Immun (2016) 0.75
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Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics (2014) 0.75
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet (2016) 0.75
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Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet (2005) 1.64
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet (2005) 1.52
PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and -independent pathways. Dev Biol (2006) 1.50
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
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A functional network module for Smith-Magenis syndrome. Clin Genet (2009) 1.10
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Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet (2004) 1.05
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A (2009) 1.01
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet (2009) 1.00
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Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med (2002) 0.90
The transcription factor MEF2C mediates cardiomyocyte hypertrophy induced by IGF-1 signaling. Biochem Biophys Res Commun (2009) 0.88
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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
Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet (2003) 2.75
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
An endothelial apelin-FGF link mediated by miR-424 and miR-503 is disrupted in pulmonary arterial hypertension. Nat Med (2012) 2.59
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Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat (2006) 2.30
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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat (2005) 2.09
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet (2005) 2.06
Dominantly-inherited lop ears. Am J Med Genet A (2007) 1.94
Circulating angiogenic precursors in idiopathic pulmonary arterial hypertension. Am J Pathol (2008) 1.90
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
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Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet (2002) 1.50
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation (2005) 1.40
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med (2006) 1.39
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. Am J Respir Crit Care Med (2011) 1.27
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Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab (2003) 1.23
Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol (2005) 1.19
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A (2006) 1.19
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Hum Mol Genet (2010) 1.17
Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combination. J Clin Endocrinol Metab (2005) 1.14
Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Brain (2004) 1.13
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med (2002) 1.11
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Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet (2012) 1.04
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet (2013) 1.03
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A (2007) 1.03
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet (2013) 1.02
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Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
How much is too much? Phenotypic consequences of Rai1 overexpression in mice. Eur J Hum Genet (2008) 0.97
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Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer (2007) 0.96
Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. Am J Respir Cell Mol Biol (2013) 0.96
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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet (2010) 0.95
The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations. Hum Mol Genet (2013) 0.94
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. Proc Natl Acad Sci U S A (2007) 0.93
Cytogenetic analysis of a primary bone angiosarcoma. Cancer Genet Cytogenet (2009) 0.93
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Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19. Cancer Genet Cytogenet (2006) 0.92
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A (2008) 0.91
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Pulmonary artery endothelium resident endothelial colony-forming cells in pulmonary arterial hypertension. Pulm Circ (2012) 0.90
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am J Med Genet A (2008) 0.89
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Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A (2008) 0.89
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A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol (2004) 0.88
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A (2005) 0.87
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A (2009) 0.87
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A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. Am J Med Genet A (2010) 0.83
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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mamm Genome (2008) 0.83
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Prolactin receptor gene polymorphisms are associated with gestational diabetes. Genet Test Mol Biomarkers (2013) 0.81
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Endothelial chromosome 13 deletion in congenital heart disease-associated pulmonary arterial hypertension dysregulates SMAD9 signaling. Am J Respir Crit Care Med (2015) 0.80
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An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome. Am J Med Genet A (2008) 0.79
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genet Test (2008) 0.79
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A (2008) 0.79
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet (2016) 0.79
Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genet (2005) 0.78
Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. Am J Med Genet A (2005) 0.78
Gene doping: the hype and the harm. Pediatr Clin North Am (2010) 0.77
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab (2015) 0.76
Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation. Am J Med Genet A (2005) 0.76
Waiting in anticipation: the genetics of pulmonary arterial hypertension. Am J Respir Crit Care Med (2012) 0.76
Dominantly inherited lop ears. Am J Med Genet A (2008) 0.75
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Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. Dis Markers (2013) 0.75
Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome. J Genet Couns (2010) 0.75
Unusual dicentric chromosome 22 associated with a 22q13 deletion. Am J Med Genet A (2006) 0.75
Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss. J Otolaryngol (2004) 0.75
Y chromosome heterochromatin of differing lengths in two cell populations of the same individual. Prenat Diagn (2005) 0.75