RICHARD GIBBS to Sequence Deletion
This is a "connection" page, showing publications RICHARD GIBBS has written about Sequence Deletion.
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0.515
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998; 11(2):121-6.
Score: 0.125
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Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
Score: 0.103
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.039
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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.
Score: 0.038
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Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 01 03; 553(7686):77-81.
Score: 0.031
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.029
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.027
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
Score: 0.027
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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54.
Score: 0.024
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.021
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7.
Score: 0.020
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28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res. 2007 Dec; 17(12):1797-808.
Score: 0.015
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.014