Published in Proc Natl Acad Sci U S A on July 07, 2010
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Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature (2010) 7.51
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Altered MicroRNA expression confined to specific epithelial cell subpopulations in breast cancer. Cancer Res (2007) 5.25
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JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature (2010) 4.35
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A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell (2010) 2.77
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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Single-molecule studies of repressor-DNA interactions show long-range interactions. Proc Natl Acad Sci U S A (2005) 1.60
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Subunit-specific agonist activity at NR2A-, NR2B-, NR2C-, and NR2D-containing N-methyl-D-aspartate glutamate receptors. Mol Pharmacol (2007) 1.56
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The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet (2005) 1.38
Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions. Genome Res (2007) 1.37
DNA in nanochannels--directly visualizing genomic information. Chem Soc Rev (2010) 1.37
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet (2012) 1.37
Sorting cells by size, shape and deformability. Lab Chip (2012) 1.37
Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol (2010) 1.35
Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. Genome Res (2011) 1.34
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet (2007) 1.33
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat (2009) 1.32
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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet (2007) 1.27
REST-mediated recruitment of polycomb repressor complexes in mammalian cells. PLoS Genet (2012) 1.26
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Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum (2010) 1.18
Plasmonic V-groove waveguides with Bragg grating filters via nanoimprint lithography. Opt Express (2012) 1.17
A method improving the accuracy of fluorescence recovery after photobleaching analysis. Biophys J (2008) 1.17
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A (2004) 1.15
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Separation of parasites from human blood using deterministic lateral displacement. Lab Chip (2011) 1.12
Electromagnetically induced transparency in metamaterials at near-infrared frequency. Opt Express (2010) 1.11
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10
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Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A (2012) 1.08
Directed self-organization of single DNA molecules in a nanoslit via embedded nanopit arrays. Proc Natl Acad Sci U S A (2009) 1.06
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia (2013) 0.99
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A (2010) 0.98
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A single-step competitive binding assay for mapping of single DNA molecules. Biochem Biophys Res Commun (2011) 0.97
A device for extraction, manipulation and stretching of DNA from single human chromosomes. Lab Chip (2011) 0.97
Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A (2009) 0.97
Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae. BMC Genomics (2012) 0.96
Stretching DNA in polymer nanochannels fabricated by thermal imprint in PMMA. Nanotechnology (2008) 0.95
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Power spectrum analysis with least-squares fitting: amplitude bias and its elimination, with application to optical tweezers and atomic force microscope cantilevers. Rev Sci Instrum (2010) 0.95
Local conformation of confined DNA studied using emission polarization anisotropy. Small (2009) 0.95
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Tipping the balance of deterministic lateral displacement devices using dielectrophoresis. Lab Chip (2009) 0.92
Bacterial chromosome extraction and isolation. Lab Chip (2002) 0.92
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