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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 6, 2013


Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, Vesanen K, et al.
Blood. 2013 Mar 1. [Epub ahead of print]

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, et al.
J Med Genet. 2013 Mar 1. [Epub ahead of print]

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, et al.
Neuromuscul Disord. 2013 Feb 28. [Epub ahead of print]

Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.
Lim BC, Lee S, Shin JY, Hwang H, et al.
Neuromuscul Disord. 2013 Feb 28. [Epub ahead of print]

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Stevens E, Carss KJ, Cirak S, Foley AR, et al.
Am J Hum Genet. 2013 Feb 26. [Epub ahead of print]

Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia.
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, et al.
Am J Hum Genet. 2013 Feb 28. [Epub ahead of print]

Mutations in C12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.
Am J Hum Genet. 2013 Feb 26. [Epub ahead of print]

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I.
Am J Hum Genet. 2013 Feb 26. [Epub ahead of print]

Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
Wu CC, Lin YH, Lu YC, Chen PJ, et al.
PLoS One. 2013;8(2):e57369.

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.
Newey PJ, Nesbit MA, Rimmer AJ, Head RA, et al.
J Clin Endocrinol Metab. 2013 Feb 28. [Epub ahead of print]

Fatal sepsis caused by an unusual Klebsiella species that was misidentified by an automated identification system.
Seki M, Gotoh K, Nakamura S, Akeda Y, et al.
J Med Microbiol. 2013 Feb 28. [Epub ahead of print]

Managing incidental genomic findings: legal obligations of clinicians.
Clayton EW, Haga S, Kuszler P, Bane E, et al.
Genet Med. 2013 Feb 28. [Epub ahead of print]

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP, McLaughlin RL, Hardiman O, Bradley DG.
Hum Mutat. 2013 Feb 27. [Epub ahead of print]

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R, Niihori T, Aoki Y, Suzuki N, et al.
J Hum Genet. 2013 Feb 28. [Epub ahead of print]

Inferring patient to patient transmission of Mycobacterium tuberculosis from whole genome sequencing data.
Bryant JM, Schürch AC, van Deutekom H, Harris SR, et al.
BMC Infect Dis. 2013 Feb 27;13(1):110.

Haplotype-assisted accurate noninvasive fetal whole genome recovery through maternal plasma sequencing.
Chen S, Ge H, Wang X, Pan X, et al.
Genome Med. 2013 Feb 27;5(2):18.

Tumor-specific isoform switch of the fibroblast growth factor receptor 2 underlies the mesenchymal and malignant phenotypes of clear cell renal cell carcinomas.
Zhao Q, Caballero OL, Davis ID, Jonasch E, et al.
Clin Cancer Res. 2013 Feb 26. [Epub ahead of print]

Clonal diversity of recurrently mutated genes in myelodysplastic syndromes.
Walter MJ, Shen D, Shao J, Ding L, et al.
Leukemia. 2013 Feb 27. [Epub ahead of print]

Next-generation sequencing for disorders of low and high bone mineral density.
Sule G, Campeau PM, Zhang VW, Nagamani SC, et al.
Osteoporos Int. 2013 Feb 27. [Epub ahead of print]

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
Dias C, McDonald A, Sincan M, Rupps R, et al.
Eur J Hum Genet. 2013 Feb 27. [Epub ahead of print]

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
Scoto M, Cullup T, Cirak S, Yau S, et al.
Eur J Hum Genet. 2013 Feb 27. [Epub ahead of print]

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
Kondo Y, Saitsu H, Miyamoto T, Lee BJ, et al.
Mol Vis. 2013;19:384-9.

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Zietara N, Uzel G, Weidemann T, et al.
J Exp Med. 2013 Feb 25. [Epub ahead of print]

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Bettencourt C, López-Sendón JL, García-Caldentey J, Rizzu P, et al.
Clin Genet. 2013 Feb 25. [Epub ahead of print]

Whole genome sequencing versus traditional genotyping for investigation of a Mycobacterium tuberculosis outbreak: a longitudinal molecular epidemiological study.
Roetzer A, Diel R, Kohl TA, Rückert C, et al.
PLoS Med. 2013 Feb;10(2):e1001387.

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, Macdonald N, et al.
Ann Neurol. 2012 Dec 13. [Epub ahead of print]

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, et al.
J Med Genet. 2013 Feb 19. [Epub ahead of print]

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M, Kamps R, van Oevelen J, Boesten I, et al.
Brain. 2013 Feb 18. [Epub ahead of print]

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
Frühmesser A, Blake J, Haberlandt E, Baying B, et al.
Eur J Hum Genet. 2013 Feb 20. [Epub ahead of print]

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Mégarbané A, Noguier F, Stora S, Manchon L, et al.
Eur J Hum Genet. 2013 Feb 20. [Epub ahead of print]

Genetic mapping and exome sequencing identify two mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Flanagan JM, Sheehan V, Linder H, Howard TA, et al.
Blood. 2013 Feb 19. [Epub ahead of print]

The Scan

Sick Newborns Selected for WGS With Automated Pipeline

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.

Acne-Linked Loci Found Through GWAS Meta-Analysis

Researchers in the European Journal of Human Genetics find new and known acne vulgaris risk loci with a genome-wide association study and meta-analysis, highlighting hair follicle- and metabolic disease-related genes.

Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

A team from China turns to prime editing to correct a retinitis pigmentosa-causing mutation in the PDE6b gene in a mouse model of the progressive photoreceptor loss condition in the Journal of Experimental Medicine.

CRISPR Screens Reveal Heart Attack-Linked Gene

Researchers in PLOS Genetics have used CRISPR screens to home in on variants associated with coronary artery disease that affect vascular endothelial function.