Published in BMC Genomics on June 12, 2007
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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet (2007) 2.35
Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age. BMC Med Genomics (2008) 2.29
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24
Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A (2006) 2.23
Primary glioblastomas express mesenchymal stem-like properties. Mol Cancer Res (2006) 2.18
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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med (2012) 2.08
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
Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA. Science (2013) 2.00
Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells. J Neurosci Res (2008) 1.96
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 1.88
Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells. J Biol Chem (2007) 1.83
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. J Cell Biol (2005) 1.74
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MicroRNA profiling and head and neck cancer. Comp Funct Genomics (2009) 1.68
Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology (2008) 1.65
Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet (2005) 1.65
Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array. Hum Genet (2004) 1.64
DNA-microarray analysis of brain cancer: molecular classification for therapy. Nat Rev Neurosci (2004) 1.64
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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet (2012) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis. Radiology (2008) 1.58
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol (2004) 1.52
Accuracy of phenotyping of autistic children based on Internet implemented parent report. Am J Med Genet B Neuropsychiatr Genet (2010) 1.51
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48