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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 3, 2013


Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, et al.
Brain. 2013 Mar 29. [Epub ahead of print]

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S, Picard F, Rudolf G, Noé E, et al.
Nat Genet. 2013 Mar 31. [Epub ahead of print]

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, et al.
Nat Genet. 2013 Mar 31. [Epub ahead of print]

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, et al.
Nat Genet. 2013 Mar 31. [Epub ahead of print]

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, et al.
Nat Genet. 2013 Mar 31. [Epub ahead of print]

Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study.
Bryant JM, Grogono DM, Greaves D, Foweraker J, et al.
Lancet. 2013 Mar 28. [Epub ahead of print]

Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, et al.
Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, et al.
Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, et al.
Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]

Quantitative and sensitive detection of GNAS mutations causing McCune-Albright syndrome with next generation sequencing.
Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T.
PLoS One. 2013;8(3):e60525.

Transcriptome sequencing of gene expression in the brain of the HIV-1 transgenic rat.
Li MD, Cao J, Wang S, Wang J, et al.
PLoS One. 2013;8(3):e59582.

Deep sequencing reveals mutagenic effects of ribavirin during monotherapy of HCV genotype 1-infected patients.
Dietz J, Schelhorn SE, Fitting D, Mihm U, et al.
J Virol. 2013 Mar 27. [Epub ahead of print]

Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains.
Zhu J, Ofek G, Yang Y, Zhang B, et al.
Proc Natl Acad Sci U S A. 2013 Mar 27. [Epub ahead of print]

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.
Yan J, Takahashi T, Ohura T, Adachi H, et al.
J Hum Genet. 2013 Mar 28. [Epub ahead of print]

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E, de Sousa Dias M, Hernan I, Pascual B, et al.
Clin Genet. 2013 Mar 27. [Epub ahead of print]

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
Krunic AL, Stone KL, Simpson MA, McGrath JA.
Pediatr Dermatol. 2013 Mar 28. [Epub ahead of print]

Global H3K4me3 genome mapping reveals alterations of innate immunity signaling and overexpression of JMJD3 in human myelodysplastic syndrome CD34+ cells.
Wei Y, Chen R, Dimicoli S, Bueso-Ramos C, et al.
Leukemia. 2013 Mar 29. [Epub ahead of print]

Characterization of oral bacterial diversity of irradiated patients by high-throughput sequencing.
Hu YJ, Wang Q, Jiang YT, Ma R, et al.
Int J Oral Sci. 2013 Mar 29;5:0. [Epub ahead of print]

Investigation of radiation-induced transcriptome profile of radioresistant non-small cell lung cancer A549 cells using RNA-seq.
Yang HJ, Kim N, Seong KM, Youn H, Youn B.
PLoS One. 2013;8(3):e59319.

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
Toledo RA, Qin Y, Srikantan S, Morales NP, et al.
Endocr Relat Cancer. 2013 Mar 26. [Epub ahead of print]

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.
Pan M, Li FT, Li Y, Jiang FM, et al.
Prenat Diagn. 2013 Mar 27:1-4.

KRAS, BRAF, and TP53 deep-sequencing for colorectal carcinoma patient diagnostics.
Rechsteiner M, von Teichman A, Rüschoff JH, Fankhauser N, et al.
J Mol Diagn. 2013 Mar 23. [Epub ahead of print]

MutComFocal: an integrative approach to identifying recurrent and focal genomic alterations in tumor samples.
Trifonov V, Pasqualucci L, Favera RD, Rabadan R.
BMC Syst Biol. 2013 Mar 25;7(1):25.

High-purity prostate circulating tumor cell isolation by a polymer nanofiber-embedded microchip for whole exome sequencing.
Zhao L, Lu YT, Li F, Wu K, et al.
Adv Mater. 2013 Mar 26. [Epub ahead of print]

Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG.
J Neurogenet. 2013 Mar 25. [Epub ahead of print]