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Last Week's Clinical Sequencing Papers of Note: Feb 19, 2014


Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, et al.
Neurogenetics. 2014 Feb 14. [Epub ahead of print]

Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, et al.
Genet Med. 2014 Feb 13. [Epub ahead of print]

Cooperativity of RUNX1 and CSF3R mutations in the development of leukemia in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, et al.
Blood. 2014 Feb 12. [Epub ahead of print]

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
Guo Y, Yuan J, Liang H, Xiao J, et al.
Mol Biol Rep. 2014 Feb 13. [Epub ahead of print]

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H, Honda J, Naoi T, Namekawa M, et al.
J Neurol Neurosurg Psychiatry. 2014 Feb 12. [Epub ahead of print]

Integration of sequence data from a consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.
Okada Y, Diogo D, Greenberg JD, Mouassess F, et al.
PLOS One. 2014 Feb 10;9(2):e87645.

The microRNA expression signature of bladder cancer by deep sequencing: the functional significance of the miR-195/497 cluster.
Itesako T, Seki N, Yoshino H, Chiyomaru T, et al.
PLOS One. 2014 Feb 10;9(2):e84311.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects.
Onoufriadis A, Shoemark A, Schmidts M, Patel M, et al.
Hum Mol Genet. 2014 Feb 11. [Epub ahead of print]

ChildSeq-RNA: a next-generation sequencing-based diagnostic assay to identify known fusion transcripts in childhood sarcomas.
Qadir MA, Zhan SH, Kwok B, Bruestle J, et al.
J Mol Diagn. 2014 Feb 8. [Epub ahead of print]

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
Tanner AK, Valencia CA, Rhodenizer D, Espirages M, et al.
J Mol Diagn. 2014 Feb 8. [Epub ahead of print]

Next generation sequencing analysis of miRNAs: miR-127-3p inhibits glioblastoma proliferation and activates TGF-β signaling by targeting SKI.
Jiang H, Jin C, Liu J, Hua D, et al.
OMICS. 2014 Feb 11. [Epub ahead of print]

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, et al.
PLOS One. 2014 Feb 7;9(2):e88410.

VarWalker: personalized mutation network analysis of putative cancer genes from next-generation sequencing data.
Jia P, Zhao Z.
PLOS Comput Biol. 2014 Feb 6;10(2):e1003460.

TBC1D7 Mutations are associated with intellectual disability, macrocrania, patellar dislocation and celiac disease.
Alfaiz AA, Micale L, Mandriani B, Augello B, et al.
Hum Mutat. 2014 Feb 11. [Epub ahead of print]

A comparison of deep sequencing of TCRG rearrangements vs traditional capillary electrophoresis for assessment of clonality in T-cell lymphoproliferative disorders.
Schumacher JA, Duncavage EJ, Mosbruger TL, Szankasi PM, Kelley TW.
Am J Clin Pathol. 2014 Mar;141(3):348-59.

AGC1 deficiency causes infantile epilepsy, abnormal myelination, and reduced N-acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, et al.
JIMD Rep. 2014 Feb 11. [Epub ahead of print]

Solitary fibrous tumors (SFTs)/hemangiopericytomas (HPCs) with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features.
Barthelmeß S, Geddert H, Boltze C, Moskalev EA, et al.
Am J Pathol. 2014 Feb 7. [Epub ahead of print]

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.