Published in BMC Genomics on December 31, 2009
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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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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
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83
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Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. J Cell Biol (2005) 1.74
SeqWare Query Engine: storing and searching sequence data in the cloud. BMC Bioinformatics (2010) 1.72
MicroRNA profiling and head and neck cancer. Comp Funct Genomics (2009) 1.68
The genomics of disulfide bonding and protein stabilization in thermophiles. PLoS Biol (2005) 1.67
Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology (2008) 1.65
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A comparison of gene expression profiles produced by SAGE, long SAGE, and oligonucleotide chips. Genomics (2004) 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
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet (2002) 1.63
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