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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 3, 2012


Somatic populations of PGT135-137 HIV-1-neutralizing antibodies identified by 454 pyrosequencing and bioinformatics.
Zhu J, O'Dell S, Ofek G, Pancera M, et al.
Front Microbiol. 2012;3:315.

Characterization of hepatitis B virus mutations in untreated patients co-infected with HIV and HBV based on complete genome sequencing.
Tangkijvanich P, Sa-Nguanmoo P, Avihingsanon A, Ruxrungtham K, et al.
J Med Virol. 2012 Sep 28. [Epub ahead of print]

Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations.
Liu DJ, Leal SM.
Am J Hum Genet. 2012 Sep 26. [Epub ahead of print]

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, et al.
Am J Hum Genet. 2012 Sep 26. [Epub ahead of print]

An RMND1 mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A, Antonicka H, Lalonde E, Nishimura T, et al.
Am J Hum Genet. 2012 Sep 25. [Epub ahead of print]

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, et al.
Am J Hum Genet. 2012 Sep 25. [Epub ahead of print]

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, et al.
Lancet. 2012 Sep 26. [Epub ahead of print]

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.
Steinberg KM, Ramachandran D, Patel V, Shetty AC, et al.
Mol Autism. 2012 Sep 28;3(1):8.

Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease.
Rousseaux MW, Marcogliese PC, Qu D, Hewitt SJ, et al.
Proc Natl Acad Sci U S A. 2012 Sep 25;109(39):15918-23.

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.
Mann PC, Cooper ME, Ryckman KK, Comas B, et al.
J Perinatol. 2012 Sep 27. [Epub ahead of print]

Quantitative analysis of the human airway microbial ecology reveals a pervasive signature for cystic fibrosis.
Blainey PC, Milla CE, Cornfield DN, Quake SR.
Sci Transl Med. 2012 Sep 26;4(153):153ra130.

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF.
Pediatr Blood Cancer. 2012 Sep 26. [Epub ahead of print]

Dysfunction of the intestinal microbiome in inflammatory bowel disease and treatment.
Morgan XC, Tickle TL, Sokol H, Gevers D, et al.
Genome Biol. 2012 Sep 26;13(9):R79.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, et al.
J Med Genet. 2012 Sep 25. [Epub ahead of print]

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.
Welander J, Larsson C, Bäckdahl M, Hareni N, et al.
Hum Mol Genet. 2012 Sep 24. [Epub ahead of print]

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, et al.
Mol Genet Metab. 2012 Sep 7. [Epub ahead of print]

Transcriptome and small RNA deep sequencing reveals deregulation of miRNA biogenesis in human glioma.
Moore LM, Kivinen V, Liu Y, Annala M, et al.
J Pathol. 2012 Sep 24. [Epub ahead of print]

Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma.
Gartner J, Davis S, Wei X, Lin JC, et al.
BMC Genomics. 2012 Sep 24;13(1):505.