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In Print: Last Week's Clinical Sequencing Papers of Note: May 15, 2013


Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency.
Janicki PK, Vaida S, Al-Mondhiry HA.
Case Rep Genet. 2013;2013:941684.

Next generation sequencing based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Fu Q, Wang F, Wang H, Xu F, et al.
Invest Ophthalmol Vis Sci. 2013 May 9. [Epub ahead of print]

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Chen Y, Zhang Q, Shen T, Xiao X, et al.
Invest Ophthalmol Vis Sci. 2013 May 9. [Epub ahead of print]

Identification of recurrent FGFR3 fusion genes in lung cancer through kinome-centered RNA sequencing.
Majewski IJ, Mittempergher L, Davidson NM, Bosma A, et al.
J Pathol. 2013 May 9. [Epub ahead of print]

Understanding pancreatic cancer genomes.
Cowley MJ, Chang DK, Pajic M, Johns AL, et al.
J Hepatobiliary Pancreat Sci. 2013 May 10. [Epub ahead of print]

Research resource: small RNA-seq of human granulosa cells reveals miRNAs in FSHR and aromatase genes.
Velthut-Meikas A, Simm J, Tuuri T, Tapanainen JS, et al.
Mol Endocrinol. 2013 May 9. [Epub ahead of print]

Whole-genome sequencing reveals a link between β-lactam resistance and synthetases of the alarmone (p)ppGpp in Staphylococcus aureus.
Mwangi MM, Kim C, Chung M, Tsai J, et al.
Microb Drug Resist. 2013 May 9. [Epub ahead of print]

Next-generation sequencing for viruses in children with rapid-onset type 1 diabetes.
Lee HS, Briese T, Winkler C, Rewers M, et al.
Diabetologia. 2013 May 9. [Epub ahead of print]

Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.
Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, et al.
N Engl J Med. 2013 May 9;368(19):1781-90.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin DH, Kousi M, Chan YM, Lim ET, et al.
N Engl J Med. 2013 May 8. [Epub ahead of print]

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Shirley MD, Tang H, Gallione CJ, Baugher JD, et al.
N Engl J Med. 2013 May 8. [Epub ahead of print]

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes spondyloepiphyseal dysplasia tarda (SEDT).
Davis EE, Savage JH, Willer JR, Jiang YH, et al.
Clin Genet. 2013 May 8. [Epub ahead of print]

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.
Nichols AC, Chan-Seng-Yue M, Yoo J, Agrawal SK, et al.
Case Rep Oncol Med. 2013;2013:270362.

Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, et al.
Mol Syndromol. 2013 Feb;4(1-2):27-31.

A distinct evolution of the T cell repertoire categorizes treatment refractory gastrointestinal acute graft-versus-host disease.
Meyer EH, Hsu AR, Liliental J, Löhr A, et al.
Blood. 2013 May 7. [Epub ahead of print]

Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing.
Wassner AJ, Cohen LE, Hechter E, Dauber A.
Horm Res Paediatr. 2013 May 3. [Epub ahead of print]

Detection of mixed infection from bacterial whole genome sequence data allows assessment of its role in Clostridium difficile transmission.
Eyre DW, Cule ML, Griffiths D, Crook DW, et al.
PLoS Comput Biol. 2013 May;9(5):e1003059.

Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.
Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, et al.
Proc Natl Acad Sci U S A. 2013 May 6. [Epub ahead of print]

The comprehensive antibiotic resistance database.
McArthur AG, Waglechner N, Nizam F, Yan A, et al.
Antimicrob Agents Chemother. 2013 May 6. [Epub ahead of print]

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ, Wen KK, Keppler-Noreuil K, McKane M, et al.
Hum Mutat. 2013 May 6. [Epub ahead of print]

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R, Kara E, Le Ber I, Bras J, et al.
JAMA Neurol. 2013 May 6:1-9. [Epub ahead of print]

Reducing sequence artifacts in amplicon-based massively parallel sequencing of formalin-fixed paraffin-embedded DNA by enzymatic depletion of uracil-containing templates.
Do H, Wong SQ, Li J, Dobrovic A.
Clin Chem. 2013 May 6. [Epub ahead of print]

Next-generation sequencing study finds an excess of rare, coding single nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA, Tuana G, Yu J, Martinelli I, et al.
J Thromb Haemost. 2013 May 7. [Epub ahead of print]

Sequences of multiple bacterial genomes and a Chlamydia trachomatis genotype from direct sequencing of DNA derived from a vaginal swab diagnostic specimen.
Andersson P, Klein M, Lilliebridge RA, Giffard PM.
Clin Microbiol Infect. 2013 Apr 6. [Epub ahead of print]

Examination with next-generation sequencing technology of the bacterial microbiota in bronchoalveolar lavage samples after traumatic injury.
Huebinger RM, Liu MM, Dowd SE, Rivera-Chavez FA, et al.
Surg Infect. (Larchmt). 2013 May 6. [Epub ahead of print]

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, et al.
Epilepsia. 2013 May 3. [Epub ahead of print]

Mutations in ALDH1A3 cause microphthalmia.
Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS.
Clin Genet. 2013 May 6. [Epub ahead of print]