Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Y, Ankala A, Wilcox WR, Hegde MR.
Genet Med. 2014 Sep 18. [Epub ahead of print]
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P, Simpson DA, Sambare C, Duffy S, et al.
Genet Med. 2014 Sep 18. [Epub ahead of print]
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
Greaves LC, Nooteboom M, Elson JL, Tuppen HA, et al.
PLOS Genet. 2014 Sep 18;10(9):e1004620.
Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae.
Conlan S, Thomas PJ, Deming C, Park M, et al.
Sci Transl Med. 2014 Sep 17;6(254):254ra126.
Tumor clone dynamics in lethal prostate cancer.
Carreira S, Romanel A, Goodall J, Grist E, et al.
Sci Transl Med. 2014 Sep 17;6(254):254ra125.
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.
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J Hum Genet. 2014 Sep 18. [Epub ahead of print]
Targeted genomic analysis of Müllerian adenosarcoma.
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J Pathol. 2014 Sep 17. [Epub ahead of print]
Comprehensive exploration of novel chimeric transcripts in clear cell renal cell carcinomas using whole transcriptome analysis.
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Genes Chromosomes Cancer. 2014 Sep 18. [Epub ahead of print]
Personalized Oncology Suite: integrating next-generation sequencing data and whole-slide bioimages.
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BMC Bioinformatics. 2014 Sep 18;15(1):306.
Return of results from genomic sequencing: a policy discussion of secondary findings for cancer predisposition.
Johnson KJ, Gehlert S.
J Cancer Policy. 2014 Sep 1;2(3):75-80.
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
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Arch Clin Exp Ophthalmol. 2014 Sep 17. [Epub ahead of print]
Microarray-based cell-free DNA analysis improves noninvasive prenatal testing.
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Fetal Diagn Ther. 2014 Sep 12. [Epub ahead of print]
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J, Zhou X, Lu Y, Chen J, et al.
Ann Hum Genet. 2014 Sep 17. [Epub ahead of print]
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
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Ophthalmology. 2014 Sep 13. [Epub ahead of print]
Highly diverse microbiota in dental root canals in cases of apical periodontitis (data of Illumina sequencing) .
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J Endod. 2014 Sep 13. [Epub ahead of print]
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
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Metab Brain Dis. 2014 Sep 17. [Epub ahead of print]
The AURORA initiative for metastatic breast cancer.
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Br J Cancer. 2014 Sep 16. [Epub ahead of print]
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
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Nat Commun. 2014 Sep 16;5:4871.
Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.
Nickerson ML, Dancik GM, Im KM, Edwards MG, et al.
Clin Cancer Res. 2014 Sep 15;20(18):4935-48.
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD, Molloy LK, Kalman JM, Semsarian C.
BMC Med Genet. 2014 Sep 16;15(1):99.
Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.
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Cancer Discov. 2014 Sep 15. [Epub ahead of print]
Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.
Hiniker A, Wong LJ, Berven S, Truong CK, et al.
Acta Neuropathol Commun. 2014 Sep 16;2(1):137.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan AO, Comu S, Baranoski JF, Parman Y, et al.
Eur J Med Genet. 2014 Sep 9. [Epub ahead of print]
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan S, Spier I, Zink AM, Altmüller J, et al.
Int J Cancer. 2014 Sep 15. [Epub ahead of print]
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.
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Hum Mutat. 2014 Sep 13. [Epub ahead of print]
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
Roberts KG, Li Y, Payne-Turner D, Harvey RC, et al.
N Engl J Med. 2014 Sep 11;371(11):1005-15.