WILLIAM CRAIGEN to Mutation, Missense
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Mutation, Missense.
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Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91.
Score: 0.077
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
Score: 0.077
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 06; 99(16):10282-6.
Score: 0.036
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925.
Score: 0.025
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Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74.
Score: 0.023
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
Score: 0.022
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The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27.
Score: 0.021
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul; 133(Pt 7):2148-59.
Score: 0.015
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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8.
Score: 0.015
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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb; 76(2):358-60.
Score: 0.010