Identification of driver genes in hepatocellular carcinoma by exome sequencing.
Cleary SP, Jeck WR, Zhao X, Kuichen, et al.
Hepatology. 2013 May 31. [Epub ahead of print]
Views of genetics health professionals on the return of genomic results.
Grove ME, Wolpert MN, Cho MK, Lee SS, Ormond KE.
J Genet Couns. 2013 Jun 2. [Epub ahead of print]
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
Carney RM, Kohli MA, Kunkle BW, Naj AC, et al.
Alzheimers Dement. 2013 May 30. [Epub ahead of print]
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
Jabara HH, Ohsumi T, Chou J, Massaad MJ, et al.
J Allergy Clin Immunol. 2013 May 30. [Epub ahead of print]
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
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Neurobiol Aging. 2013 May 30. [Epub ahead of print]
A novel missense mutation of FGFR3 in a Chinese female and her fetus with hypochondroplasia by next-generation sequencing.
Wang H, Sun Y, Wu W, Wei X, et al.
Clin Chim Acta. 2013 Aug 23;423C:62-65.
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
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Brain Dev. 2013 May 28. [Epub ahead of print]
Next generation sequencing in psychiatric research: what study participants need to know about research findings.
Mathieu G, Groisman IJ, Godard B.
Int J Neuropsychopharmacol. 2013 Jun 3:1-9. [Epub ahead of print]
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.
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Arterioscler Thromb Vasc Biol. 2013 May 30. [Epub ahead of print]
Return of incidental findings in genomic medicine: measuring what patients value-development of an instrument to measure preferences for information from next-generation testing (IMPRINT).
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Genet Med. 2013 May 30. [Epub ahead of print]
Predicting antimicrobial susceptibilities for Escherichia coli and Klebsiella pneumonia isolates using whole genomic sequence data.
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J Antimicrob Chemother. 2013 May 30. [Epub ahead of print]
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.
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Eur J Med Genet. 2013 May 27. [Epub ahead of print]
Minimum core genome sequence typing of bacterial pathogens: a unified approach for clinical and public health microbiology.
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J Clin Microbiol. 2013 May 29. [Epub ahead of print]
Replication fitness of multiple NNRTI-resistant HIV-1 variants in the presence of etravirine measured by 454 deep sequencing.
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J Virol. 2013 May 29. [Epub ahead of print]
Gut metagenome in European women with normal, impaired and diabetic glucose control.
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Nature. 2013 May 29. [Epub ahead of print]
The new genetics and informed consent: differentiating choice to preserve autonomy.
Bunnik EM, de Jong A, Nijsingh N, de Wert GM.
Bioethics. 2013 May 30. [Epub ahead of print]
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
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Br J Haematol. 2013 May 30. [Epub ahead of print]
Hybrid DNA virus in Chinese patients with seronegative hepatitis discovered by deep sequencing.
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Proc Natl Acad Sci U S A. 2013 May 28. [Epub ahead of print]
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
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Proc Natl Acad Sci U S A. 2013 May 28. [Epub ahead of print]
Homozygous mutations in a predicted endonuclease cause congenital dyserythropoietic anemia type I.
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Haematologica. 2013 May 28. [Epub ahead of print]
Next-generation-sequencing-spectratyping reveals public T-cell receptor repertoires in pediatric very severe aplastic anemia and identifies a beta chain CDR3 sequence associated with hepatitis-induced pathogenesis.
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Haematologica. 2013 May 28. [Epub ahead of print]
Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome.
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Genome Res. 2013 May 28. [Epub ahead of print]
Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family.
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J Bone Miner Res. 2013 May 29. [Epub ahead of print]
Genome-wide identification of genes with amplification and/or fusion in small cell lung cancer.
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Genes Chromosomes Cancer. 2013 May 28. [Epub ahead of print]
Diversity of the vaginal microbiome correlates with preterm birth.
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Reprod Sci. 2013 May 28. [Epub ahead of print]
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
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Nat Genet. 2013 May 29;45(6):713.
Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients.
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Transl Psychiatry. 2013 May 28;3:e264.
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
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Eur J Hum Genet. 2013 May 29. [Epub ahead of print]
Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline.
Hadj Khodabakhshi A, Fejes AP, Birol I, Jones SJ.
BMC Bioinformatics. 2013 May 28;14(1):167.
Ethical and legal implications of whole genome and whole exome sequencing in African populations.
Wright GE, Koornhof PG, Adeyemo AA, Tiffin N.
BMC Med Ethics. 2013 May 28;14(1):21.
Molecular epidemiology of community-associated methicillin-resistant Staphylococcus aureus in the genomic era: a cross-sectional study.
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Sci Rep. 2013 May 28;3:1902.
Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.
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Bioinformatics. 2013 May 27. [Epub ahead of print]