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Clinical Sequencing Papers of Note: Jun 8, 2011


Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.
Chen YW, Zhao W, Zhang ZF, et al.
Pediatr Cardiol. 2011 Jun 4. [Epub ahead of print]

The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.
Bott M, Brevet M, Taylor BS, et al.
Nat Genet. 2011 Jun 5. [Epub ahead of print]

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Puente XS, Pinyol M, Quesada V, et al.
Nature. 2011 Jun 5. [Epub ahead of print]

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J, Smaoui N, Hammer M, et al.
Invest Ophthalmol Vis Sci. 2011 Jun 3. [Epub ahead of print]

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
Rodriguez G, Ueyama T, Ogata T, et al.
Circ Cardiovasc Genet. 2011 Jun 3. [Epub ahead of print]

Characterizing the impact of smoking and lung cancer on the airway transcriptome using RNA-seq.
Beane J, Vick J, Schembri F, et al.
Cancer Prev Res (Phila) . 2011 Jun;4(6):803-17.

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
Kapplinger JD, Landstrom AP, Salisbury BA, et al.
J Am Coll Cardiol. 2011 Jun 7;57(23):2317-27.

Exonic DNA sequencing of ERBB4 in bipolar disorder.
Goes FS, Rongione M, Chen YC, et al.
PLoS One. 2011;6(5):e20242.

Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility.
Xie CC, Lu L, Sun J, Zheng SL, Isaacs WB, Gronberg H, Xu J.
J Hum Genet. 2011 Jun 2. [Epub ahead of print]

Detection of minority resistance during early HIV-1 infection: natural variation and spurious detection rather than transmission and evolution of multiple viral variants.
Gianella S, Delport W, Pacold ME, et al.
J Virol. 2011 Jun 1. [Epub ahead of print]

High throughput sequencing reveals diversity of human papillomaviruses in cutaneous lesions.
Ekström J, Bzhalava D, Svenback D, Forslund O, Dillner J.
Int J Cancer. 2011 May 31. [Epub ahead of print]

Exome sequencing in a family segregating for celiac disease.
Szperl AM, Ricaño-Ponce I, Li JK, et al.
Clin Genet. 2011 May 31. [Epub ahead of print]

Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S.
Clin Exp Nephrol. 2011 May 31. [Epub ahead of print]

deFuse: An algorithm for gene fusion discovery in tumor RNA-seq data.
McPherson A, Hormozdiari F, Zayed A, et al.
PLoS Comput Biol. 2011 May;7(5):e1001138.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorder.
Schaaf CP, Sabo A, Sakai Y, et al.
Hum Mol Genet. 2011 May 30. [Epub ahead of print]

Amplicon based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA, Schüle R, Klimpe S, et al.
Clin Genet. 2011 May 27. [Epub ahead of print]