William Dobyns to Genetic Testing
This is a "connection" page, showing publications William Dobyns has written about Genetic Testing.
Connection Strength
0.629
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Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017 09 01; 171(9):863-871.
Score: 0.114
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
Score: 0.105
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.093
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Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26.
Score: 0.091
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33.
Score: 0.057
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A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.050
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
Score: 0.024
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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015 Feb; 167A(2):287-95.
Score: 0.024
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Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
Score: 0.017
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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12; 70(7):556-65.
Score: 0.015
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav. 2007 Aug; 6(6):503-16.
Score: 0.014
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Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7.
Score: 0.013
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.013