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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 20, 2013


Somatic Mutations, Allele Loss, and DNA Methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) Gene Reveals Association with Early Age of Diagnosis in Colorectal Cancer Patients.
Shull AY, Clendenning ML, Ghoshal-Gupta S, Farrell CL, et al.
PLoS One. 2013;8(3):e58731.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, et al.
Ann Rheum Dis. 2013 Mar 16. [Epub ahead of print]

Characterization of the dynamics of hepatitis B virus resistance to adefovir by ultra-deep pyrosequencing.
Rodriguez C, Chevaliez S, Bensadoun P, Pawlotsky JM.
Hepatology. 2013 Mar 15. [Epub ahead of print]

Systematic study of human long intergenic non-coding RNAs and their impact on cancer.
Sun L, Luo H, Liao Q, Bu D, et al.
Sci China Life Sci. 2013 Mar 16. [Epub ahead of print]

An algorithmic approach for breakage-fusion-bridge detection in tumor genomes.
Zakov S, Kinsella M, Bafna V.
Proc Natl Acad Sci U S A. 2013 Mar 15. [Epub ahead of print]

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
Ramsay AJ, Quesada V, Foronda M, Conde L, et al.
Nat Genet. 2013 Mar 17. [Epub ahead of print]

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, et al.
Mitochondrion. 2013 Mar 13. [Epub ahead of print]

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta.
Pyott SM, Tran TT, Leistritz DF, Pepin MG, et al.
Am J Hum Genet. 2013 Mar 12. [Epub ahead of print]

Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.
Tanaka D, Nagashima K, Sasaki M, Funakoshi S, et al.
Mol Genet Metab. 2013 Feb 21. [Epub ahead of print]

PhIP-Seq characterization of autoantibodies from patients with multiple sclerosis, type 1 diabetes and rheumatoid arthritis.
Larman HB, Laserson U, Querol L, Verhaeghen K, et al.
J Autoimmun. 2013 Mar 13. [Epub ahead of print]

Mutation spectrum in human colorectal cancers and potential functional relevance.
Yin H, Liang Y, Yan Z, Liu B, Su Q.
BMC Med Genet. 2013 Mar 8;14:32.

Gene rearrangements in hormone receptor negative breast cancers revealed by mate pair sequencing.
Jiao X, Hooper SD, Djureinovic T, Larsson C, et al.
BMC Genomics. 2013 Mar 12;14:165.

GPSM2 and Chudley-McCullough syndrome: A Dutch founder variant brought to North America.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, et al.
Am J Med Genet A. 2013 Mar 13. [Epub ahead of print]

Oral cavity tumors in younger patients show a poor prognosis and do not contain viral RNA.
Brägelmann J, Dagogo-Jack I, El Dinali M, Stricker T, et al.
Oral Oncol. 2013 Mar 9. [Epub ahead of print]

Subgingival microbiome in smokers and non-smokers in periodontitis: an exploratory study using traditional targeted techniques and a next-generation sequencing.
Bizzarro S, Loos BG, Laine ML, Crielaard W, Zaura E.
J Clin Periodontol. 2013 Feb 4. [Epub ahead of print]

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Maselli R, Arredondo J, Nguyen J, Lara M, et al.
Clin Genet. 2013 Mar 11. [Epub ahead of print]

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, et al.
Eur J Hum Genet. 2013 Mar 13. [Epub ahead of print]

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer.
Dawson SJ, Tsui DW, Murtaza M, Biggs H, et al.
N Engl J Med. 2013 Mar 13. [Epub ahead of print]

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P.
Biomed Res Int. 2013;2013:198089.

Differential Expression of miR-145 in Children with Kawasaki Disease.
Shimizu C, Kim J, Stepanowsky P, Trinh C, et al.
PLoS One. 2013;8(3):e58159.

High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma.
Jensen TJ, Zwiefelhofer T, Tim RC, Džakula Z, et al.
PLoS One. 2013;8(3):e57381.

Don't Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.
Varga RE, Schüle R, Fadel H, Valenzuela I, et al.
Hum Mutat. 2013 Mar 8. [Epub ahead of print]

Identification of serum microRNAs in genome-wide serum microRNA expression profiles as novel noninvasive biomarkers for malignant peripheral nerve sheath tumor diagnosis.
Weng Y, Chen Y, Chen J, Liu Y, Bao T.
Med Oncol. 2013 Jun;30(2):531.

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, et al.
Brain. 2013 Mar 12. [Epub ahead of print]

Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.
Egan JB, Kortuem KM, Kortuem KM, Kurdoglu A, et al.
Br J Haematol.2013 Mar 11. [Epub ahead of print]

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities.
Ferkol TW, Puffenberger EG, Lie H, Helms C, et al.
J Pediatr. 2013 Mar 7. [Epub ahead of print]