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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 24, 2013


Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, et al.
Neurology. 2013 Apr 17. [Epub ahead of print]

Targeted exome sequencing of suspected mitochondrial disorders.
Lieber DS, Calvo SE, Shanahan K, Slate NG, et al.
Neurology. 2013 Apr 17. [Epub ahead of print]

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia.
Rajala HL, Eldfors S, Kuusanmäki H, van Adrichem AJ, et al.
Blood. 2013 Apr 17. [Epub ahead of print]

Cytosolic 5'-nucleotidase 1A autoimmunity in sporadic inclusion body myositis.
Benjamin Larman H, Salajegheh M, Nazareno R, Lam T, et al.
Ann Neurol. 2013 Mar;73(3):408-18.

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O, Strand NS, Berndt JD, Strovas T, et al.
Hum Mol Genet. 2013 Apr 16. [Epub ahead of print]

Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing.
Leung TY, Qu JZ, Liao GJ, Jiang P, et al.
Prenat Diagn. 2013 Apr 17. [Epub ahead of print]

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, et al.
Ann Neurol. 2012 Dec 13. [Epub ahead of print]

Genome-wide identification of bone metastasis-related microRNAs in lung adenocarcinoma by high-throughput sequencing.
Xie L, Yang Z, Li G, Shen L, et al.
PLoS One. 2013 Apr 8;8(4):e61212.

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Liu L, Sabo A, Neale BM, Nagaswamy U, et al.
PLoS Genet. 2013 Apr;9(4):e1003443.

Genetic and genomic architecture of the evolution of resistance to antifungal drug combinations.
Hill JA, Ammar R, Torti D, Nislow C, Cowen LE.
PLoS Genet. 2013 Apr;9(4):e1003390.

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
Zhou D, Ji H, Wei Z, Guo L, et al.
Mol Vis. 2013 Apr 5;19:789-795.

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma.
Mazloom AR, Džakula Z, Wang H, Oeth P, et al.
Prenat Diagn. 2013 Apr 16. [Epub ahead of print]

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.
Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE.
Prenat Diagn. 2013 Apr 16. [Epub ahead of print]

Genotyping of 25 leukemia-associated genes in a single work flow by next-generation sequencing technology with low amounts of input template DNA.
Rinke J, Schäfer V, Schmidt M, Ziermann J, et al.
Clin Chem. 2013 Apr 16. [Epub ahead of print]

Exomic sequencing of four rare central nervous system tumor types.
Bettegowda C, Agrawal N, Jiao Y, Wang Y, et al.
Oncotarget. 2013 Apr 6. [Epub ahead of print]

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples.
Futch T, Spinosa J, Bhatt S, de Feo E, et al.
Prenat Diagn. 2013 Apr 16. [Epub ahead of print]

A method for non-invasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing.
Chen S, Lau TK, Zhang C, Xu C, et al.
Prenat Diagn. 2013 Apr 16. [Epub ahead of print]

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, et al.
Hum Mol Genet. 2013 Apr 15. [Epub ahead of print]

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, et al.
Hum Mol Genet. 2013 Apr 15. [Epub ahead of print]

Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.
McElroy JJ, Gutman CE, Shaffer CM, Busch TD, et al.
Hum Genet. 2013 Apr 17. [Epub ahead of print]

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, et al.
Eur J Hum Genet. 2013 Apr 17. [Epub ahead of print]

Multiplex targeted high throughput sequencing for Mendelian cardiac disorders.
Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, et al.
Clin Genet. 2013 Apr 16. [Epub ahead of print]

Prognostic microRNA/mRNA signature from the integrated analysis of patients with invasive breast cancer.
Volinia S, Croce CM.
Proc Natl Acad Sci U S A. 2013 Apr 15. [Epub ahead of print]

Laser capture microdissection-reduced representation bisulfite sequencing (LCM-RRBS) maps changes in DNA methylation associated with gonadectomy-induced adrenocortical neoplasia in the mouse.
Schillebeeckx M, Schrade A, Löbs AK, Pihlajoki M, et al.
Nucleic Acids Res. 2013 Apr 15. [Epub ahead of print]

Emergence of telaprevir-resistant variants detected by ultra-deep sequencing after triple therapy in patients infected with HCV genotype 1.
Akuta N, Suzuki F, Seko Y, Kawamura Y, et al.
J Med Virol. 2013 Jun;85(6):1028-36.

Identification of tumorigenic and therapeutically actionable mutations in transplantable mouse tumor cells by exome sequencing.
Bhadury J, López MD, Muralidharan SV, Nilsson LM, Nilsson JA.
Oncogenesis. 2013 Apr 15;2:e44.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Hodge JC, Mitchell E, Pillalamarri V, Toler TL, et al.
Mol Psychiatry. 2013 Apr 16. [Epub ahead of print]

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.
Tanisawa K, Mikami E, Fuku N, Honda Y, et al.
BMC Genomics. 2013 Apr 15;14(1):248.

Exome re-sequencing identifies potential tumor suppressor genes that predispose to colorectal cancer.
Smith CG, Naven M, Harris R, Colley J, et al.
Hum Mutat. 2013 Apr 13. [Epub ahead of print]

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.
The St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project, Zhang J, Wu G, Miller CP, et al.
Nat Genet. 2013 Apr 14. [Epub ahead of print]

Application of a new informatics tool for contamination screening in the HIV sequencing laboratory.
Ebbert MT, Mallory MA, Wilson AR, Dooley SK, Hillyard DR.
J Clin Virol. 2013 Apr 11. [Epub ahead of print]

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
Jang MA, Woo HI, Kim JW, Lee J, Ki CS.
Pediatr Neurol. 2013 May;48(5):411-4.

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Simons C, Wolf NI, McNeil N, Caldovic L, et al.
Am J Hum Genet. 2013 Apr 9. [Epub ahead of print]