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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.
Genet Med. 2008.
PMID: 18414213
Free article.
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Item in Clipboard
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, Mandel H, Fukao T, Ruiter JP, Wanders RJ, McAndrew R, Kim JJ, Bastin J.
Gobin-Limballe S, et al.
Am J Hum Genet. 2007 Dec;81(6):1133-43. doi: 10.1086/522375. Epub 2007 Oct 29.
Am J Hum Genet. 2007.
PMID: 17999356
Free PMC article.
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Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW.
Mathur A, et al.
Circulation. 1999 Mar 16;99(10):1337-43. doi: 10.1161/01.cir.99.10.1337.
Circulation. 1999.
PMID: 10077518
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VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U.
Hoffmann L, et al.
J Inherit Metab Dis. 2012 Mar;35(2):269-77. doi: 10.1007/s10545-011-9391-8. Epub 2011 Sep 20.
J Inherit Metab Dis. 2012.
PMID: 21932095
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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