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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 27, 2013

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Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome.
Wald NJ, Bestwick JP.
PLoS One. 2013;8(3):e58732.


Transcriptome sequencing of tumor subpopulations reveals a spectrum of therapeutic options for squamous cell lung cancer.
Barrett CL, Schwab RB, Jung H, Crain B, et al.
PLoS One. 2013;8(3):e58714.


Whole genome sequencing identifies zoonotic transmission of MRSA isolates with the novel mecA homologue mecC.
Harrison EM, Paterson GK, Holden MT, Larsen J, et al.
EMBO Mol Med. 2013 Mar 25. [Epub ahead of print]


G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
Lesage S, Anheim M, Letournel F, Bousset L, et al.
Ann Neurol. 2013 Mar 22. [Epub ahead of print]


RNA sequencing of MCF-7 breast cancer cells identifies novel estrogen-responsive genes with functional estrogen receptor-binding sites in the vicinity of their transcription start sites.
Yamaga R, Ikeda K, Horie-Inoue K, Ouchi Y, et al.
Horm Cancer. 2013 Mar 23. [Epub ahead of print]


Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
Sivakumaran TA, Husami A, Kissell D, Zhang W, et al.
Otolaryngol Head Neck Surg. 2013 Mar 22. [Epub ahead of print]


Identification of extracellular miRNA in human cerebrospinal fluid by next-generation sequencing.
Burgos KL, Javaherian A, Bomprezzi R, Ghaffari L, et al.
RNA. 2013 Mar 22. [Epub ahead of print]


Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.
Dulak AM, Stojanov P, Peng S, Lawrence MS, et al.
Nat Genet. 2013 Mar 24. [Epub ahead of print]


Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D, Martin E, Carpentier W, Lim A, et al.
J Allergy Clin Immunol. 2013 Mar 20. [Epub ahead of print]


Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.
Zhang J, Shi Y, Lalonde E, Li L, et al.
BMC Cancer. 2013 Mar 22;13(1):146.


Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.
Yuan J, Higuchi Y, Nagado T, Nozuma S, et al.
J Peripher Nerv Syst. 2013 Mar;18(1):89-93.


Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria.
Zhang C, Li D, Zhang J, Chen X, et al.
J Invest Dermatol. 2013 Mar 21. [Epub ahead of print]


Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, et al.
Brain. 2013 Mar 21. [Epub ahead of print]


Next-generation sequencing identifies microRNAs that associate with pathogenic autoimmune neuroinflammation in rats.
Bergman P, James T, Kular L, Ruhrmann S, et al.
J Immunol. 2013 Mar 20. [Epub ahead of print]


Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Toro C, Olivé M, Dalakas MC, Sivakumar K, et al.
BMC Neurol. 2013 Mar 20;13(1):29.


Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia.
Chen C, Bartenhagen C, Gombert M, Okpanyi V, et al.
Genes Chromosomes Cancer. 2013 Mar 18. [Epub ahead of print]


Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis LM, Tyler RC, Muheisen S, Raggio V, et al.
Hum Genet. 2013 Mar 19. [Epub ahead of print]


Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, et al.
Clin Genet. 2013 Mar 18. [Epub ahead of print]


Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
Park G, Gim J, Kim A, Han KH, et al.
BMC Genomics. 2013 Mar 18;14(1):191.

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