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Recent Clinical Sequencing Papers of Note: May 28, 2014


Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers.
Xu L, Gu ZH, Li Y, Zhang JL, et al.
Proc Natl Acad Sci U S A. 2014 May 21. [Epub ahead of print]

Data on whole-genome-sequencing is insufficient to rule out patient-to-patient transmission as a significant source of Staphylococcus aureus acquisition in an ICU.
Mills JP, Linkin DR et al.
Clin Infect Dis. 2014 May 20. [Epub ahead of print]

Deep sequencing of HIV infected cells: insights into nascent transcription and host-directed therapy.
Peng X, Sova P, Green RR, Thomas MJ, et al.
J Virol. 2014 May 21. [Epub ahead of print]

Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.
Wang L, Yang Y, Song J, Mao L, et al.
J Child Neurol. 2014 May 21. [Epub ahead of print]

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S, Osaka H, Shiina M, Sasaki M, et al.
Neurology. 2014 May 21. [Epub ahead of print]

Whole genome sequencing for high-resolution investigation of methicillin resistant Staphylococcus aureus epidemiology and genome plasticity.
SenGupta DJ, Cummings LA, Hoogestraat DR, Butler-Wu SM, et al.
J Clin Microbiol. 2014 May 21. [Epub ahead of print]

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Mina ED, Ciccone R, Brustia F, Bayindir B, et al.
Eur J Hum Genet. 2014 May 21. [Epub ahead of print]

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite D, Kofent J, Gong M, Rüschendorf F, et al.
Diabetes. 2014 May 21. [Epub ahead of print]

Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing.
Hovestadt V, Jones DT, Picelli S, Wang W, et al.
Nature. 2014 May 18. [Epub ahead of print]

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
Yu Y, Triebwasser MP, Wong EK, Schramm EC, et al.
Hum Mol Genet. 2014 May 20. [Epub ahead of print]

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Houten SM, Denis S, Te Brinke H, Jongejan A, et al.
Hum Mol Genet. 2014 May 8. [Epub ahead of print]

A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity.
Günaydin NC, Chou J, Karaca NE, Aksu G, et al.
Clin Immunol. 2014 May 17. [Epub ahead of print]

CLImAT: accurate detection of copy number alteration and loss of heterozygosity in impure and aneuploid tumor samples using whole-genome sequencing data.
Yu Z, Liu Y, Shen Y, Wang M, Li A.
Bioinformatics. 2014 May 19. [Epub ahead of print]

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.
Yu JH, Crouch J, Jamal SM, Bamshad MJ, Tabor HK.
Am J Med Genet A. 2014 May 20. [Epub ahead of print]

Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS, Hague L, Chelliserry M, Kruglyak KM, et al.
Expert Rev Mol Diagn. 2014 Jun;14(5):605-22.

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.
Yu SC, Chan KC, Zheng YW, Jiang P, et al.
Proc Natl Acad Sci U S A. 2014 May 19. [Epub ahead of print]

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X, Gao H, Zhang J, Xu X, et al.
PLOS One. 2014 May 19;9(5):e97274.

HIV-1 Quasispecies delineation by tag linkage deep sequencing.
Wu NC, De La Cruz J, Al-Mawsawi LQ, Olson CA, et al.
PLOS One. 2014 May 19;9(5):e97505.