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Clinical Sequencing Papers of Note: Mar 29, 2011

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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

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NFT of the Web

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