Patrick Gaffney to Mutation
This is a "connection" page, showing publications Patrick Gaffney has written about Mutation.
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0.810
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TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus. Genes Immun. 2016 04; 17(3):165-70.
Score: 0.391
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9.
Score: 0.136
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538.
Score: 0.109
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RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10; 91(2):391-5.
Score: 0.077
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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 07 26; 3(14).
Score: 0.029
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ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 06 07; 102(6):1158-1168.
Score: 0.029
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18; 111(11):4197-202.
Score: 0.021
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Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 2011 Jun; 12(4):270-9.
Score: 0.017