WILLIAM CRAIGEN to Pedigree
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Pedigree.
Connection Strength
0.322
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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: 0.079
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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct; 46(4):1218-27.
Score: 0.053
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Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet. 2018 05; 93(5):1097-1102.
Score: 0.027
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.027
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Sch?pf-Schulz-Passarge syndrome with an unusual pattern of inheritance. Am J Med Genet. 1997 Aug 08; 71(2):186-8.
Score: 0.026
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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: 0.025
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Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81.
Score: 0.020
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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.
Score: 0.020
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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9.
Score: 0.017
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.012
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A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401.
Score: 0.007
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
Score: 0.005
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Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice. J Biol Chem. 1990 Aug 25; 265(24):14684-90.
Score: 0.004