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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 22, 2012


Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N, Robertson PD, Rieder MJ, Zuchner S, et al.
Circ Cardiovasc Genet. 2012 Feb 15. [Epub ahead of print]

Exome analysis of a family with pleiotropic congenital heart disease.
Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, et al.
Circ Cardiovasc Genet. 2012 Feb 15. [Epub ahead of print]

Deep-sequencing analysis reveals that the miR-199a2/214 cluster within DNM3os represents the vast majority of aberrantly expressed microRNAs in Sézary syndrome.
Qin Y, Buermans HP, van Kester MS, van der Fits L, et al.
J Invest Dermatol. 2012 Feb 16. [Epub ahead of print]

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Al-Thihli K, Ebrahim H, Hughes DA, Patel M, et al.
Gene. 2012 Jan 31. [Epub ahead of print]

Truncations of titin causing dilated cardiomyopathy.
Herman DS, Lam L, Taylor MR, Wang L, et al.
N Engl J Med. 2012 Feb 16;366(7):619-28.

Full-genome dissection of an epidemic of severe invasive disease caused by a hypervirulent, recently emerged clone of group A Streptococcus.
Fittipaldi N, Beres SB, Olsen RJ, Kapur V, et al.
Am J Pathol. 2012 Feb 10. [Epub ahead of print]

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