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Clinical Sequencing Papers of Note: Mar 29, 2011


Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
Liu Y, Gao M, Lv YM, et al.
J Invest Dermatol. 2011 Mar 24. [Epub ahead of print]

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Gilling M, Lind-Thomsen A, Mang Y, et al.
Eur J Med Genet. 2011 Mar 19. [Epub ahead of print]

Blood ties: chimerism can mask twin discordance in high-throughput sequencing.
Erlich Y.
Twin Res Hum Genet. 2011 Apr;14(2):137-43.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Gauthier J, Siddiqui TJ, Huashan P, et al.
Hum Genet. 2011 Mar 22. [Epub ahead of print]

Strong association between HLA-B*1502 and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in mainland Han Chinese patients.
Zhang Y, Wang J, Zhao LM, et al.
Eur J Clin Pharmacol. 2011 Mar 19. [Epub ahead of print]

Autosomal recessive Stickler syndrome in two families caused by mutations in the COL9A1 gene.
Nikopoulos K, Schrauwen I, Simon M, et al.
Invest Ophthalmol Vis Sci. 2011 Mar 18. [Epub ahead of print]

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.