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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]