RICHARD GIBBS to Signal Transduction
This is a "connection" page, showing publications RICHARD GIBBS has written about Signal Transduction.
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0.317
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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2795-9.
Score: 0.052
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
Score: 0.047
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.023
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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 11 19; 11(1):5903.
Score: 0.019
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617.
Score: 0.015
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Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997 Mar; 7(3):268-80.
Score: 0.015
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Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89.
Score: 0.014
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Comparative genomic study of arachnid immune systems indicates loss of beta-1,3-glucanase-related proteins and the?immune deficiency pathway. J Evol Biol. 2016 Feb; 29(2):277-91.
Score: 0.013
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Hemichordate genomes and deuterostome origins. Nature. 2015 Nov 26; 527(7579):459-65.
Score: 0.013
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Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes. Nat Genet. 2015 Dec; 47(12):1426-34.
Score: 0.013
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Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med. 2016 Jan 14; 374(2):135-45.
Score: 0.013
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Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med. 2015 Jun 25; 372(26):2481-98.
Score: 0.013
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
Score: 0.012
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Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 Jul 10; 511(7508):241-5.
Score: 0.012
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Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. J Pathol. 2014 Apr; 232(5):522-33.
Score: 0.012
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The somatic genomic landscape of glioblastoma. Cell. 2013 Oct 10; 155(2):462-77.
Score: 0.012
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 Nov 15; 491(7424):399-405.
Score: 0.011
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.008