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Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants.
Heart Rhythm. 2017 Oct;14(10):1531-1538. doi: 10.1016/j.hrthm.2017.05.027. Epub 2017 May 24.
Heart Rhythm. 2017.
PMID: 28549997
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.
Paludan-Müller C, Ghouse J, Vad OB, Herfelt CB, Lundegaard P, Ahlberg G, Schmitt N, Svendsen JH, Haunsø S, Bundgaard H, Hansen T, Kanters JK, Olesen MS.
Paludan-Müller C, et al. Among authors: herfelt cb.
Eur J Hum Genet. 2019 Sep;27(9):1427-1435. doi: 10.1038/s41431-019-0416-3. Epub 2019 May 1.
Eur J Hum Genet. 2019.
PMID: 31043699
Free PMC article.
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Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Paludan-Müller C, Ahlberg G, Ghouse J, Herfelt C, Svendsen JH, Haunsø S, Kanters JK, Olesen MS.
Paludan-Müller C, et al.
Clin Genet. 2017 Jan;91(1):63-72. doi: 10.1111/cge.12847. Epub 2016 Sep 26.
Clin Genet. 2017.
PMID: 27538377
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