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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 31, 2013


Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.
Opatz S, Polzer H, Herold T, Konstandin NP, Ksienzyk B, Zellmeier E, et al.
Blood. 2013 Jul 22. [Epub ahead of print]

Identification of a recurrent transforming UBR5-ZNF423 fusion gene in EBV-associated nasopharyngeal carcinoma.
Chung GT, Lung RW, Hui AB, Yip KY, Woo JK, Chow C, Tong CY, Lee SD, et al.
J Pathol. 2013 Jul 22. [Epub ahead of print]

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
Shaheen R, Faqeih E, Ansari S, Alkuraya FS.
Neurogenetics. 2013 Jul 23. [Epub ahead of print]

Whole Genome Sequencing of an Unusual Serotype of Shiga Toxin-producing Escherichia coli.
Dallman T, Cross L, Bishop C, Perry N, Olesen B, Grant KA, Jenkins C.
Emerg Infect Dis. 2013 Aug;19(8):1302-4.

MelanomaDB: A Web Tool for Integrative Analysis of Melanoma Genomic Information to Identify Disease-Associated Molecular Pathways.
Trevarton AJ, Mann MB, Knapp C, Araki H, Wren JD, Stones-Havas S, Black MA, Print CG.
Front Oncol. 2013 Jul 16;3:184.

High-Throughput miRNA and mRNA Sequencing of Paired Colorectal Normal, Tumor and Metastasis Tissues and Bioinformatic Modeling of miRNA-1 Therapeutic Applications.
Röhr C, Kerick M, Fischer A, Kühn A, Kashofer K, Timmermann B, et al.
PLoS One. 2013 Jul 2;8(7):e67461.

Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and nonrecurrent candidate genes.
Merker JD, Roskin KM, Ng D, Pan C, Fisk DG, King JJ, Hoh R, Stadler M, et al.
Haematologica. 2013 Jul 19. [Epub ahead of print]

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.
Piton A, Redin C, Mandel JL.
Am J Hum Genet. 2013 Jul 17. pii: S0002-9297(13)00282-6.

A method to identify new molecular markers for assessing minimal residual disease in acute leukemia patients.
Jancuskova T, Plachy R, Stika J, Zemankova L, Hardekopf DW, Liehr T, et al.
Leuk Res. 2013 Jul 16. pii: S0145-2126(13)00195-1.

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, et al.
PLoS One. 2013 Jul 15;8(7):e68740.

Characterization of CXCR4-using HIV-1 during primary infection by ultra-deep pyrosequencing.
Raymond S, Saliou A, Nicot F, Delobel P, Dubois M, Carcenac R, Sauné K, Marchou B, Massip P, Izopet J.
J Antimicrob Chemother. 2013 Jul 18. [Epub ahead of print]

Exome sequencing in familial corticobasal degeneration.
Fekete R, Bainbridge M, Baizabal-Carvallo JF, Rivera A, Miller B, Du P, et al.
Parkinsonism Relat Disord. 2013 Jul 15. pii: S1353-8020(13)00234-4.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, et al.
J Clin Invest. 2013 Jul 8. pii: 69134.

HIVID: An efficient method to detect HBV integration using low coverage sequencing.
Li W, Zeng X, Lee NP, Liu X, Chen S, Guo B, Yi S, Zhuang X, Chen F, Wang G, et al.
Genomics. 2013 Jul 15. pii: S0888-7543(13)00130-4.

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: Report of novel disease-causing variants.
Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, et al.
Mol Vis. 2013 Jul 20;19:1580-90.

Multidrug-resistant tuberculosis in Panama is driven by clonal expansion of an MDR-TB strain related to the KZN XDR-TB strain from South Africa.
Lanzas F, Karakousis PC, Sacchettini JC, Ioerger TR.
J Clin Microbiol. 2013 Jul 24. [Epub ahead of print]

Educational Needs and Preferred Methods of Learning Among Florida Practitioners Who Order Genetic Testing for Hereditary Breast and Ovarian Cancer.
Cragun D, Besharat AD, Lewis C, Vadaparampil ST, Pal T.
J Cancer Educ. 2013 Jul 26. [Epub ahead of print]

Activating HRAS Mutation in Agminated Spitz Nevi Arising in a Nevus Spilus.
Sarin KY, Sun BK, Bangs CD, Cherry A, Swetter SM, Kim J, Khavari PA.
JAMA Dermatol. 2013 Jul 24. [Epub ahead of print]

Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing.
Horvath A, Pakala SB, Mudvari P, Reddy SD, Ohshiro K, Casimiro S, Pires R, et al.
Sci Rep. 2013 Jul 25;3:2256.

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, Kenny EM, et al.
J Med Genet. 2013 Jul 23. [Epub ahead of print]

Identification of Genes Critical for Resistance to Infection by West Nile Virus Using RNA-Seq Analysis.
Qian F, Chung L, Zheng W, Bruno V, Alexander RP, Wang Z, Wang X, et al.
Viruses. 2013 Jul 8;5(7):1664-81.

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H.
J Neurol. 2013 Jul 24. [Epub ahead of print]

Genomics of lymphoid malignancies reveal major activation pathways in lymphocytes.
Knoechel B, Lohr JG.
J Autoimmun. 2013 Jul 20. pii: S0896-8411(13)00086-3.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, et al.
Orphanet J Rare Dis. 2013 Jul 24;8(1):110.