RICHARD GIBBS to Nuclear Proteins
This is a "connection" page, showing publications RICHARD GIBBS has written about Nuclear Proteins.
Connection Strength
0.963
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
Score: 0.114
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
Score: 0.113
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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med. 2020 10; 8(10):e1439.
Score: 0.105
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.
Score: 0.105
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Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 Mar; 6(3):479-86.
Score: 0.083
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Improved ligation-anchored PCR strategy for identification of 5' ends of transcripts. Biotechniques. 1996 Jul; 21(1):34-6, 38.
Score: 0.079
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3.
Score: 0.073
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.068
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MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 Jan; 229(1):99-110.
Score: 0.062
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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5.
Score: 0.022
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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.021
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Genomic organization of the mouse double minute 2 gene. Gene. 1996 Oct 10; 175(1-2):209-13.
Score: 0.020
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.020
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 08; 37(8):804-11.
Score: 0.020
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
Score: 0.020
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Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016 Mar 03; 531(7592):47-52.
Score: 0.019
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Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 Dec 06; 450(7171):893-8.
Score: 0.011
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The genome sequence of Drosophila melanogaster. Science. 2000 Mar 24; 287(5461):2185-95.
Score: 0.006