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In Print: Last Week's Clinical Sequencing Papers of Note: May 16, 2012


Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, et al.
J Med Genet. 2012 May;49(5):332-40.

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, et al.
J Med Genet. 2012 May;49(5):322-6.

Clinical application of exome sequencing in undiagnosed genetic conditions.
Need AC, Shashi V, Hitomi Y, Schoch K, et al.
J Med Genet. 2012 May 11. [Epub ahead of print]
(see our coverage in CSN 5/9/2012)

Ultrasensitive measurement of hotspot mutations in tumor DNA in blood using error-suppressed multiplexed deep sequencing.
Narayan A, Carriero NJ, Gettinger SN, Kluytenaar J, et al.
Cancer Res. 2012 May 10. [Epub ahead of print]

BRAFV600E remodels the melanocyte transcriptome and induces BANCR to regulate melanoma cell migration.
Flockhart RJ, Webster DE, Qu K, Mascarenhas N, et al.
Genome Res. 2012 May 11. [Epub ahead of print]

Towards a mtDNA locus-specific mutation database using the LOVD platform.
Elson JL, Sweeney MG, Procaccio V, Yarham JW, et al.
Hum Mutat. 2012 May 11. [Epub ahead of print]

Paralogous annotation of disease-causing variants in Long QT syndrome genes.
Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.
Hum Mutat. 2012 May 11. [Epub ahead of print]

Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs.
Saunders CT, Wong W, Swamy S, Becq J, et al.
Bioinformatics. 2012 May 10. [Epub ahead of print]

Combined deep microRNA and mRNA sequencing identifies protective transcriptomal signature of enhanced PI3Kα signaling in cardiac hypertrophy.
Yang KC, Ku YC, Lovett M, Nerbonne JM.
J Mol Cell Cardiol. 2012 May 10. [Epub ahead of print]

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Doherty D, Chudley AE, Coghlan G, Ishak GE, et al.
Am J Hum Genet. 2012 May 9. [Epub ahead of print]

Genomic characterisation of acral melanoma cell lines.
Furney SJ, Turajlic S, Fenwick K, Lambros MB, et al.
Pigment Cell Melanoma Res. 2012 May 12. [Epub ahead of print]

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
Martinez FJ, Lee JH, Lee JE, Blanco S, et al.
J Med Genet. 2012 May 10. [Epub ahead of print]

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Ohlsson M, Hedberg C, Brådvik B, Lindberg C, et al.
Brain. 2012 May 9. [Epub ahead of print]

Titin mutation segregates with hereditary myopathy with early respiratory failure.
Pfeffer G, Elliott HR, Griffin H, Barresi R, et al.
Brain. 2012 May 9. [Epub ahead of print]

Low-cost ultra-wide genotyping using Roche/454 pyrosequencing for surveillance of HIV drug resistance.
Dudley DM, Chin EN, Bimber BN, Sanabani SS, et al.
PLoS One. 2012;7(5):e36494.

Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma.
Walker BA, Wardell CP, Melchor L, Hulkki S, et al.
Blood. 2012 May 9. [Epub ahead of print]

Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms.
Stumm M, Entezami M, Trunk N, Beck M, et al.
Prenat Diagn. 2012 May 9:1-9.

Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.
Larusch J, Barmada MM, Solomon S, Whitcomb DC.
JOP. 2012 May 10;13(3):258-62.

HPV-QUEST: A highly customized system for automated HPV sequence analysis capable of processing next generation sequencing data set.
Yin L, Yao J, Gardner BP, Chang K, et al.
Bioinformation. 2012;8(8):388-90.

The characteristics of genome-wide DNA methylation in naïve CD4+ T cells of patients with psoriasis or atopic dermatitis.
Han J, Park SG, Bae JB, Choi J, et al.
Biochem Biophys Res Commun. 2012 Apr 30. [Epub ahead of print]

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin is associated with juvenile Parkinsonism.
Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, et al.
PLoS One. 2012;7(5):e36458.

Concordant signaling pathways produced by pesticide exposure in mice correspond to pathways identified in human Parkinson's disease.
Gollamudi S, Johri A, Calingasan NY, Yang L, et al.
PLoS One. 2012;7(5):e36191.

Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma.
Jensen TJ, Dzakula Z, Deciu C, van den Boom D, Ehrich M.
Clin Chem. 2012 May 4. [Epub ahead of print]

Gut microbial colonisation in premature neonates predicts neonatal sepsis.
Madan JC, Salari RC, Saxena D, Davidson L, et al.
Arch Dis Child Fetal Neonatal. Ed. 2012 May 6. [Epub ahead of print]

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack TB, Rolinski B, Haberberger B, Zimmermann F, et al.
J Inherit Metab Dis. 2012 May 5. [Epub ahead of print]

Exome sequencing of liver fluke-associated cholangiocarcinoma.
Ong CK, Subimerb C, Pairojkul C, Wongkham S, et al.
Nat Genet. 2012 May 6. [Epub ahead of print]

Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.
Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, et al.
Nat Genet. 2012 May 6. [Epub ahead of print]

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Jaeger E, Leedham S, Lewis A, Segditsas S, et al.
Nat Genet. 2012 May 6. [Epub ahead of print]

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, et al.
Am J Hum Genet. 2012 May 4;90(5):907-14.