{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:40:43Z","timestamp":1770068443551,"version":"3.49.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease. An array-based resequencing (ABR) assay was developed to facilitate genetic testing in HCM.<\/jats:p>\n               <jats:p>Methods: An Affymetrix resequencing array and a single long-range PCR protocol were developed to cover the 3 most commonly affected genes in HCM, MYH7 (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)].<\/jats:p>\n               <jats:p>Results: The assay detected the underlying point mutation in 23 of 24 reference samples and provided pointers toward identifying a G insertion and a 3-bp deletion. The comparability of array-based assay results to conventional capillary sequencing was \u226599.9%. Both techniques detected 1 heterozygous variant that was missed by the other method.<\/jats:p>\n               <jats:p>Conclusions: The data provide evidence that ABR can substantially reduce the high workload previously associated with a genetic test for HCM. Therefore, the HCM array could facilitate large-scale studies aimed at broadening the understanding of the genetic and phenotypic diversity of HCM and related cardiomyopathies.<\/jats:p>","DOI":"10.1373\/clinchem.2007.099119","type":"journal-article","created":{"date-parts":[[2008,2,8]],"date-time":"2008-02-08T01:58:04Z","timestamp":1202435884000},"page":"682-687","source":"Crossref","is-referenced-by-count":34,"title":["Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy"],"prefix":"10.1093","volume":"54","author":[{"given":"Stephan","family":"Waldmu\u0308ller","sequence":"first","affiliation":[{"name":"Institute for Heart and Circulation Research, University of Witten\/Herdecke, Dortmund, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Mu\u0308ller","sequence":"first","affiliation":[{"name":"Institute for Heart and Circulation Research, University of Witten\/Herdecke, Dortmund, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Rackebrandt","sequence":"first","affiliation":[{"name":"Institute for Heart and Circulation Research, University of Witten\/Herdecke, Dortmund, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priska","family":"Binner","sequence":"first","affiliation":[{"name":"Institute for Heart and Circulation Research, University of Witten\/Herdecke, Dortmund, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Poths","sequence":"first","affiliation":[{"name":"Institute for Human Genetics, University of Tu\u0308bingen, Tu\u0308bingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Bonin","sequence":"first","affiliation":[{"name":"Institute for Human Genetics, University of Tu\u0308bingen, Tu\u0308bingen, 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