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Clinical Sequencing Papers of Note: May 31, 2011

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Sequence capture and next generation resequencing of the MHC region highlights potential transplantation determinants in HLA Identical haematopoietic stem cell transplantation.
Pröll J, Danzer M, Stabentheiner S, et al.
DNA Res. 2011 May 28. [Epub ahead of print]


Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, et al.
Am J Hum Genet. 2011 May 25. [Epub ahead of print]


A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, et al.
Hum Genet. 2011 May 24. [Epub ahead of print]


Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing.
Greif PA, Yaghmaie M, Konstandin NP, et al.
Leukemia. 2011 May 24. [Epub ahead of print]


Discovery of new microRNAs by small RNAome deep sequencing in childhood acute lymphoblastic leukemia.
Schotte D, Moqadam FA, Lange-Turenhout EA, et al.
Leukemia. 2011 May 24. [Epub ahead of print]


Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
Song K, Nelson MR, Aponte J, et al.
Pharmacogenomics J. 2011 May 24. [Epub ahead of print]


Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P, McGee TL, Capelli LP, et al.
Hum Mutat. 2011 Jun;32(6):E2246-58.


Depicting the role of TP53 in hepatocellular carcinoma progression.
Villanueva A, Hoshida Y.
J Hepatol. 2011 May 14. [Epub ahead of print]


Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.
Wei W, Liu F, Liu L, et al.
BMB Rep. 2011 May;44(5):317-22.

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