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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 15, 2012


Return of genetic results in the familial dilated cardiomyopathy research project.
Siegfried JD, Morales A, Kushner JD, Burkett E, et al.
J Genet Couns. 2012 Aug 11. [Epub ahead of print]

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA, Bando M, Nakato R, Watrin E, et al.
Nature. 2012 Aug 12. [Epub ahead of print]

Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics.
Schmitz R, Young RM, Ceribelli M, Jhavar S, et al.
Nature. 2012 Aug 12. [Epub ahead of print]

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Andrade DM, Paton T, Turnbull J, Marshall CR, et al.
Pediatr Neurol. 2012 Sep;47(3):205-8.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Hassed SJ, Wiley GB, Wang S, Lee JY, et al.
Am J Hum Genet. 2012 Aug 10;91(2):391-5.

TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, et al.
Am J Hum Genet. 2012 Aug 10;91(2):372-8.

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H, Sako W, Yoshida M, Kawarai T, et al.
Am J Hum Genet. 2012 Aug 10;91(2):320-9.

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D, Lu L, Yang HB, Li M, et al.
Chin Med J (Engl). 2012 Jul;125(14):2482-6.

Origin, diversity, and maturation of human antiviral antibodies analyzed by high-throughput sequencing.
Prabakaran P, Zhu Z, Chen W, Gong R, et al.
Front Microbiol. 2012;3:277.

Routine use of microbial whole genome sequencing in diagnostic and public health microbiology.
Köser CU, Ellington MJ, Cartwright EJ, Gillespie SH, et al.
PLoS Pathog. 2012 Aug;8(8):e1002824.

Whole exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Campeau PM, Lu JT, Sule G, Jiang MM, et al.
Hum Mol Genet. 2012 Aug 8. [Epub ahead of print]

Alternative cleavage and polyadenylation during colorectal cancer development.
Morris AR, Bos A, Diosdado B, Rooijers K, et al.
Clin Cancer Res. 2012 Aug 8. [Epub ahead of print]

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.
Ozcelik H, Shi X, Chang MC, Tram E, et al.
Mol Diagn. 2012 Jul 28. [Epub ahead of print]

Global mutational profiling of formalin-fixed human colon cancers from a pathology archive.
Adams MD, Veigl ML, Wang Z, Molyneux N, et al.
Mod Pathol. 2012 Aug 10. [Epub ahead of print]

MicroRNA profiling of Epstein-Barr virus-associated NK/T-cell lymphomas by deep sequencing.
Motsch N, Alles J, Imig J, Zhu J, et al.
PLoS One. 2012;7(8):e42193.

Bacterial community shift in treated periodontitis patients revealed by Ion Torrent 16S rRNA gene amplicon sequencing.
Jünemann S, Prior K, Szczepanowski R, Harks I, et al.
PLoS One. 2012;7(8):e41606.

ChIPnorm: a statistical method for normalizing and identifying differential regions in histone modification ChIP-seq libraries.
Nair NU, Sahu AD, Bucher P, Moret BM.
PLoS One. 2012;7(8):e39573.

Increased inflammatory markers identified in the dorsolateral prefrontal cortex of individuals with schizophrenia.
Fillman SG, Cloonan N, Catts VS, Miller LC, et al.
Mol Psychiatry. 2012 Aug 7. [Epub ahead of print]

Ultra-high resolution HLA genotyping and allele discovery by highly multiplexed cDNA amplicon pyrosequencing.
Lank SM, Golbach BA, Creager HM, Wiseman RW, et al.
BMC Genomics. 2012 Aug 6;13(1):378.

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