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Last Week's Clinical Sequencing Papers of Note: May 14, 2014


Cancer immunotherapy based on mutation-specific CD4+ T cells in a patient with epithelial cancer.
Tran E, Turcotte S, Gros A, Robbins PF, et al.
Science. 2014 May 9;344(6184):641-5.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, et al.
J Med Genet. 2014 May 8. [Epub ahead of print]

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
Tsang SH, Burke T, Oll M, Yzer S, et al.
Ophthalmology. 2014 May 6. [Epub ahead of print]

Unique molecular signatures as a hallmark of patients with metastatic breast cancer: Implications for current treatment paradigms.
Wheler JJ, Parker BA, Lee JJ, Atkins JT, et al.
Oncotarget. 2014 May 2. [Epub ahead of print]

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.
Behjati S, Maschietto M, Williams RD, Side L, et al.
PLOS One. 2014 May 8;9(5):e96531.

Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C, Diodato D, Kevelam SH, Haack TB, et al.
Neurology. 2014 May 7. [Epub ahead of print]

Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, et al.
Neurology. 2014 May 7. [Epub ahead of print]

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, et al.
Neurology. 2014 May 7. [Epub ahead of print]

Diagnostic value of next-generation sequencing in an unusual sphenoid tumor.
Jamshidi F, Pleasance E, Li Y, Shen Y, et al.
Oncologist. 2014 May 7. [Epub ahead of print]

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J, McCleland M, Stawiski EW, Gnad F, et al.
Nat Commun. 2014 May 8;5:3830.

Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.
Hall MP, Hill M, Zimmermann B, Sigurjonsson S, et al.
PLOS One. 2014 May 7;9(5):e96677.

"Would you test your children without their consent?" and other sticky dilemmas in the field of cancer genetic testing.
Brierley KL, Bonadies DC, Moyer A, Matloff ET.
Fam Cancer. 2014 May 8. [Epub ahead of print]

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.
Alemán A, Garcia-Garcia F, Salavert F, Medina I, Dopazo J.
Nucleic Acids Res. 2014 May 6. [Epub ahead of print]

Noninvasive in vivo monitoring of tissue-specific global gene expression in humans.
Koh W, Pan W, Gawad C, Fan HC, et al.
Proc Natl Acad Sci U S A. 2014 May 5. [Epub ahead of print]

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Liao C, Yin AH, Peng CF, Fu F, et al.
Proc Natl Acad Sci U S A. 2014 May 5. [Epub ahead of print]

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K, Hüning I, Obieglo C, Schwarzmayr T, et al.
Am J Med Genet A. 2014 May 5. [Epub ahead of print]

Enabling a genetically informed approach to cancer medicine: a retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel.
Johnson DB, Dahlman KH, Knol J, Gilbert J, et al.
Oncologist. 2014 May 5. [Epub ahead of print]

Molecular tumor board: the University of California San Diego Moores Cancer Center experience.
Schwaederle M, Parker BA, Schwab RB, Fanta PT, et al.
Oncologist. 2014 May 5. [Epub ahead of print]

ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma.
Laforest A, Aparicio T, Zaanan A, Silva FP, et al.
Eur J Cancer. 2014 May 2. [Epub ahead of print]

Evolution of simeprevir-resistant variants over time by ultra-deep sequencing in HCV genotype 1b.
Akuta N, Suzuki F, Sezaki H, Suzuki Y, et al.
J Med Virol. 2014 May 5. [Epub ahead of print]

Targeted deep sequencing of HIV-1 using the Ion Torrent PGM platform.
Kijak GH, Sanders-Buell E, Harbolick EA, Pham P, et al.
J Virol Methods. 2014 May 2. [Epub ahead of print]

Profiles of extracellular miRNA in cerebrospinal fluid and serum from patients with Alzheimer's and Parkinson's diseases correlate with disease status and features of pathology.
Burgos K, Malenica I, Metpally R, Courtright A, et al.
PLOS One. 2014 May 5;9(5):e94839.

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.
Kristensen T, Larsen M, Rewes A, Frederiksen H, et al.
J Mol Diagn. 2014 May 2. [Epub ahead of print]

Next generation sequencing sheds light on the natural history of hepatitis C infection in patients that fail treatment.
Abdelrahman T, Hughes J, Main J, McLauchlan J, et al.
Hepatology. 2014 May 2. [Epub ahead of print]

Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.
Zuhlke KA, Johnson AM, Tomlins SA, Palanisamy N, et al.
Prostate. 2014 May 6. [Epub ahead of print]

Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, et al.
Ann Neurol. 2014 Apr 29. [Epub ahead of print]

RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, et al.
Nat Genet. 2014 Apr 28. [Epub ahead of print]

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
Holla OL, Bock G, Busk OL, Isfoss BL.
Endoscopy. 2014 Apr 28. [Epub ahead of print]

Transcriptome profiling of the cancer and normal tissues from gastric cancer patients by deep sequencing.
Zhang FG, He ZY, Wang Q.
Tumour Biol. 2014 Apr 30. [Epub ahead of print]

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.
Cazier JB, Rao SR, McLean CM, Walker AL, et al.
Nat Commun. 2014 Apr 29;5:3756.

Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.
Yang Z, Xu Y, Luo H, Ma X, et al.
PLOS One. 2014 Apr 28;9(4):e92298.

The DNA methylome and transcriptome of different brain regions in schizophrenia and bipolar disorder.
Xiao Y, Camarillo C, Ping Y, Arana TB, et al.
PLOS One. 2014 Apr 28;9(4):e95875.

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
McCarthy SE, Gillis J, Kramer M, Lihm J, et al.
Mol Psychiatry. 2014 Apr 29. [Epub ahead of print]

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
Fröhler S, Kieslich M, Langnick C, Feldkamp M, et al.
BMC Med Genet. 2014 Apr 29;15(1):48.

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
Mizuno O, Nomura T, Suzuki S, Takeda M, et al.
Br J Dermatol. 2014 Apr 28. [Epub ahead of print]

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
Guo Y, Yuan L, Yi J, Xiao J, et al.
Indian J Biochem Biophys. 2013 Aug;50(4):253-8.