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In Print: Last Week's Clinical Sequencing Papers of Note: Jun 20, 2012


Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Sankaran VG, Ghazvinian R, Do R, Thiru P, et al.
J Clin Invest. 2012 Jun 18. pii: 63597. [Epub ahead of print]

Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma.
Koo GC, Tan SY, Tang T, Poon SL, et al.
Cancer Discov. 2012 Jun 15. [Epub ahead of print]

Identification of PTK6, via RNA sequencing analysis, as a suppressor of esophageal squamous cell carcinoma.
Ma S, Bao JY, Kwan PS, Chan YP, et al.
Gastroenterology. 2012 Jun 13. [Epub ahead of print]

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C, Pieber TR, Hertel N, Schabhüttl M, et al.
Am J Hum Genet. 2012 Jun 14. [Epub ahead of print]

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J, Tawk M, Tiziano FD, Veillet J, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ, Rubinstein WS, Facio FM, Ng D, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]

Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, et al.
Am J Hum Genet. 2012 Jun 13. [Epub ahead of print]

A simple method for analyzing exome sequencing data shows distinct levels of nonsynonymous variation for human immune and nervous system genes.
Freudenberg J, Gregersen PK, Freudenberg-Hua Y.
PLoS One. 2012;7(6):e38087.

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, et al.
PLoS One. 2012;7(6):e37423. Epub 2012 Jun 11.

Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, et al.
Sci Transl Med. 2012 Jun 13;4(138):138ra78.

Optimal tests for rare variant effects in sequencing association studies.
Lee S, Lin X, Wu MC.
Biostatistics. 2012 Jun 14. [Epub ahead of print]

Microbiota separation and C-reactive protein elevation in treatment naïve pediatric granulomatous Crohn disease.
Kellermayer R, Mir SA, Nagy-Szakal D, Cox SB, et al.
J Pediatr Gastroenterol Nutr. 2012 Jun 13. [Epub ahead of print]

Detecting rare variants for quantitative traits using nuclear families.
Guo W, Shugart YY.
Hum Hered. 2012 Jun 12;73(3):148-158.

Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients.
Xiong D, Li G, Li K, Xu Q, et al.
Carcinogenesis. 2012 Jun 13. [Epub ahead of print]

Effects of informed consent for individual genome sequencing on relevant knowledge.
Kaphingst KA, Facio FM, Cheng MR, Brooks S, et al.
Clin Genet. 2012 Jun 13;9999(999A).

Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak.
Köser CU, Holden MT, Ellington MJ, Cartwright EJ, et al.
N Engl J Med. 2012 Jun 14;366(24):2267-75.

Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
Wang Y, Guo L, Cai SP, Dai M, et al.
PLoS One. 2012;7(5):e33673. Epub 2012 May 31.

Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, et al.
Hum Mutat. 2012 Jun 12. [Epub ahead of print]

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I, Dor T, Halvardson J, Edvardson S, et al.
Epilepsia. 2012 Jun 12. [Epub ahead of print]

Distinct DNA methylomes of newborns and centenarians.
Heyn H, Li N, Ferreira HJ, Moran S, et al.
Proc Natl Acad Sci U S A. 2012 Jun 11. [Epub ahead of print]

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL, Buckley RH, Luo B, Pei J, et al.
Proc Natl Acad Sci U S A. 2012 Jun 11. [Epub ahead of print]

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.