JAMES LUPSKI to RNA, Messenger
This is a "connection" page, showing publications JAMES LUPSKI has written about RNA, Messenger.
Connection Strength
0.418
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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006 Oct; 14(10):1074-81.
Score: 0.138
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Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet. 2016 Feb; 135(2):253-6.
Score: 0.067
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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004 Apr; 36(4):361-9.
Score: 0.029
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Functional characteristics of a broad spectrum of TBX6?variants in Mayer-Rokitansky-K?ster-Hauser syndrome. Genet Med. 2022 11; 24(11):2262-2273.
Score: 0.027
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
Score: 0.024
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.020
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.020
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
Score: 0.018
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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 05; 97(5):647-60.
Score: 0.017
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Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14; 269(41):25795-808.
Score: 0.015
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Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86.
Score: 0.012
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Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol. 2010 Nov 23; 8(11):e1000543.
Score: 0.012
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.011
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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80.
Score: 0.008
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Structure and organization of genes for sporozoite surface antigens. Philos Trans R Soc Lond B Biol Sci. 1984 Nov 13; 307(1131):129-39.
Score: 0.002