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16-04-2019 | Commentary | Uitgave 6/2019 Open Access

Evaluation of gene panels for inherited cardiac disease—is less more?

Tijdschrift:: Netherlands Heart Journal > Uitgave 6/2019

Auteurs:: D. Dooijes, M. Siemelink, A. F. Baas

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Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

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van Lint FHM, Mook ORF, Alders M, et al. Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. Neth Heart J. 2019. https://doi.org/10.1007/s12471-019-1250-5. CrossRefPubMed

Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29:1282–91. CrossRef

Walsh R, Thomson KL, Ware JS, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19:192–203. CrossRef

Ingles J, Goldstein J, Thaxton C, et al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ Genom Precis Med. 2019;12:e2460. PubMedPubMedCentral

Christiaans I, Mook ORF, Alders M, et al. Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice. Neth Heart J. 2019. https://doi.org/10.1007/s12471-019-1251-4. CrossRefPubMed

Titel: Evaluation of gene panels for inherited cardiac disease—is less more?
Auteurs:: D. Dooijes
M. Siemelink
A. F. Baas
Publicatiedatum: 16-04-2019
DOI: https://doi.org/10.1007/s12471-019-1279-5
Uitgeverij: Bohn Stafleu van Loghum
Tijdschrift: Netherlands Heart Journal
Uitgave 6/2019
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250

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