Challenges in evaluating next-generation sequence data for clinical decisions.
Williams JK, Cashion AK, Veenstra DL.
Nurs Outlook. 2014 Aug 23. [Epub ahead of print]
Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing.
McGowan ML, Fishman JR, Settersten RA Jr, Lambrix MA, Juengst ET.
PLoS One. 2014 Sep 26;9(9):e108484.
STUB1 mutations in autosomal recessive ataxias; evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, et al.
Orphanet J Rare Dis. 2014 Sep 26;9(1):146.
RNA-sequencing reveals oligodendrocyte and neuronal transcripts in microglia relevant to central nervous system disease.
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Glia. 2014 Sep 24. [Epub ahead of print]
Confirmation of the cellular targets of benomyl and rapamycin using next-generation sequencing of resistant mutants in S. cerevisiae.
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Mol Biosyst. 2014 Sep 26. [Epub ahead of print]
Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas.
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Oncotarget. 2014 Aug 12. [Epub ahead of print]
A balanced look at the implications of genomic (and other "omics") testing for disease diagnosis and clinical care.
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Genes. 2014 Sep 1;5(3):748-66.
The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome (SMRXS).
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Clin Genet. 2014 Sep 26. [Epub ahead of print]
Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.
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Cancer Res. 2014 Sep 25. [Epub ahead of print]
Next generation DNA sequencing of a Swedish malignant hyperthermia cohort.
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Clin Genet. 2014 Sep 25. [Epub ahead of print]
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
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Genet Med. 2014 Sep 25. [Epub ahead of print]
Regulatory changes raise troubling questions for genomic testing.
Evans BJ, Dorschner MO, Burke W, Jarvik GP.
Genet Med. 2014 Sep 25. [Epub ahead of print]
Clinical laboratory response to a mock outbreak of invasive bacterial infections: a preparedness study.
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J Clin Microbiol. 2014 Sep 24. [Epub ahead of print]
KIF1A mutation in a patient with progressive neurodegeneration.
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J Hum Genet. 2014 Sep 25. [Epub ahead of print]
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.
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Mol Genet Genomics. 2014 Sep 25. [Epub ahead of print]
Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia.
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Leukemia. 2014 Sep 25. [Epub ahead of print]
Screening for trisomies 21, 18 and 13 cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks.
Quezada MS, Del Mar Gil M, Francisco C, Oròsz G, Nicolaides KH.
Ultrasound Obstet Gynecol. 2014 Sep 24. [Epub ahead of print]
Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome.
Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES.
Am J Med Genet A. 2014 Sep 23. [Epub ahead of print]
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
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Am J Med Genet A. 2014 Sep 23. [Epub ahead of print]
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
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Am J Med Genet A. 2014 Sep 23. [Epub ahead of print]
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
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Am J Med Genet A. 2014 Sep 22. [Epub ahead of print]
Transmission of methicillin-resistant Staphylococcus aureus infection through solid organ transplantation: confirmation via whole genome sequencing.
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Am J Transplant. 2014 Sep 22. [Epub ahead of print]
Transmission of methicillin-resistant Staphylococcus aureus via deceased donor liver transplantation confirmed by whole genome sequencing.
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Am J Transplant. 2014 Sep 22. [Epub ahead of print]
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
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J Clin Invest. 2014 Sep 24. [Epub ahead of print]
Identification of novel mutations by exome sequencing in African American colorectal cancer patients.
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Cancer. 2014 Sep 23. [Epub ahead of print]
Genetic profiling of thymic carcinoma using targeted next-generation sequencing.
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Lung Cancer. 2014 Sep 10. [Epub ahead of print]
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
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Brain Dev. 2014 Sep 20. [Epub ahead of print]
Intratumor heterogeneity in hepatocellular carcinoma.
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Clin Cancer Res. 2014 Sep 23. [Epub ahead of print]
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
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PLoS Biol. 2014 Sep 23;12(9):e1001952.
Spatial and temporal evolution of distal 10q deletion, a prognostically unfavorable event in diffuse low-grade gliomas.
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Genome Biol. 2014 Sep 23;15(9):471.
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
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Brain. 2014 Aug;137(Pt 8):2164-77.
Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings.
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Am J Med Genet A. 2014 Sep 22. [Epub ahead of print]
Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data.
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PLoS One. 2014 Sep 22;9(9):e107800.
Functional analysis of variance for association studies.
Vsevolozhskaya OA, Zaykin DV, Greenwood MC, Wei C, Lu Q.
PLoS One. 2014 Sep 22;9(9):e105074.
Functional analysis of variance for association studies.
Vsevolozhskaya OA, Zaykin DV, Greenwood MC, Wei C, Lu Q.
PLoS One. 2014 Sep 22;9(9):e105074.
Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.
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J Clin Invest. 2014 Sep 17. [Epub ahead of print]
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
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Neuropediatrics. 2014 Sep 22. [Epub ahead of print]
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.
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Int J Mol Med. 2014 Sep 19. [Epub ahead of print]
Single-cell RNA sequencing identifies extracellular matrix gene expression by pancreatic circulating tumor cells.
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Cell Rep. 2014 Sep 25;8(6):1905-18.
Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos.
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Fertil Steril. 2014 Sep 17. [Epub ahead of print]
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
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Eur J Med Genet. 2014 Sep 17. pii: S1769-7212(14)00171-2.
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
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Genet Metab. 2014 Sep 8. [Epub ahead of print]
Identification of chimeric TSNAX-DISC1 resulting from intergenic splicing in endometrial carcinoma through high-throughput RNA sequencing.
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Carcinogenesis. 2014 Sep 19. [Epub ahead of print]
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
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Haematologica. 2014 Sep 19. [Epub ahead of print]
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
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Epilepsy Res. 2014 Sep 4. [Epub ahead of print]
Novel fusion transcripts associate with progressive prostate cancer.
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Am J Pathol. 2014 Sep 1. [Epub ahead of print]
High-throughput sequencing of plasma microRNA in chronic fatigue syndrome/myalgic encephalomyelitis.
Brenu EW, Ashton KJ, Batovska J, Staines DR, Marshall-Gradisnik SM.
PLoS One. 2014 Sep 19;9(9):e102783.
A serum microRNA panel as potential biomarkers for hepatocellular carcinoma related with hepatitis B virus.
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PLoS One. 2014 Sep 19;9(9):e107986.
Differential and limited expression of mutant alleles in multiple myeloma.
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Blood. 2014 Sep 18. [Epub ahead of print]
Distinguishing between driver and passenger mutations in individual cancer genomes by network enrichment analysis.
Merid SK, Goranskaya D, Alexeyenko A.
BMC Bioinformatics. 2014 Sep 19;15(1):308.
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
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Br J Dermatol. 2014 Sep 18. [Epub ahead of print]
Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
Zhang Y, Liu Y, Li Y, Duan Y, et al.
BMC Med Genet. 2014 Sep 19;15(1):105.
Transcriptome analysis of pancreatic cancer reveals a tumor suppressor function for HNF1A.
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Carcinogenesis. 2014 Sep 18. [Epub ahead of print]
Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes.
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Nat Commun. 2014 Sep 19;5:5006.
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Stockler S, Corvera S, Lambright D, Fogarty K, et al.
Orphanet J Rare Dis. 2014 Sep 20;9(1):141.
'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing.
Lewis C, Choudhury M, Chitty LS.
Prenat Diagn. 2014 Sep 18. [Epub ahead of print]