 Connection
Kathryn Chatfield to Mutation
This is a "connection" page, showing publications Kathryn Chatfield has written about Mutation.
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Connection Strength |
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0.575 |
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Chatfield KC, Sparagna GC, Specht KS, Whitcomb LA, Omar AK, Miyamoto SD, Wolfe LM, Chicco AJ. Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy. J Inherit Metab Dis. 2022 01; 45(1):111-124.
Score: 0.095
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Bell JM, Considine EM, McCallen LM, Chatfield KC. The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis. J Pediatr. 2021 Jul; 234:134-141.e5.
Score: 0.090
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McCallen LM, Ameduri RK, Denfield SW, Dodd DA, Everitt MD, Johnson JN, Lee TM, Lin AE, Lohr JL, May LJ, Pierpont ME, Stevenson DA, Chatfield KC. Cardiac transplantation in children with Noonan syndrome. Pediatr Transplant. 2019 09; 23(6):e13535.
Score: 0.080
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Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Hum Mol Genet. 2018 10 15; 27(20):3475-3487.
Score: 0.076
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Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonz?lez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fern?ndez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 10 03; 9(1):4065.
Score: 0.076
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Friederich MW, Erdogan AJ, Coughlin CR, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 02 15; 26(4):702-716.
Score: 0.068
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Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A. 2012 Oct; 158A(10):2499-505.
Score: 0.050
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Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. The heart in RASopathies. Am J Med Genet C Semin Med Genet. 2022 12; 190(4):440-451.
Score: 0.025
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Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79.
Score: 0.015
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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