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Last Week's Clinical Sequencing Papers of Note: Apr 23, 2014


Predictive genomics: A cancer hallmark network framework for predicting tumor clinical phenotypes using genome sequencing data.
Wang E, Zaman N, McGee S, Milanese JS , et al.
Semin Cancer Biol. 2014 Apr 16. [Epub ahead of print]

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, Choi M, et al.
Nat Genet. 2014 Apr 20. [Epub ahead of print]

Integrated genomic characterization of adrenocortical carcinoma.
Assié G, Letouzé E, Fassnacht M, Jouinot A, et al.
Nat Genet. 2014 Apr 20. [Epub ahead of print]

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, et al.
Nat Genet. 2014 Apr 20. [Epub ahead of print]

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, et al.
Nat Genet. 2014 Apr 20. [Epub ahead of print]

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Ordulu Z, Wong KE, Currall BB, Ivanov AR , et al.
Am J Hum Genet. 2014 Apr 16. [Epub ahead of print]

Isolation and molecular characterization of circulating melanoma cells.
Luo X, Mitra D, Sullivan RJ, Wittner BS, et al.
Cell Rep. 2014 Apr 16. [Epub ahead of print]

Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E, Kansu A, Sic H, Májek P, et al.
J Allergy Clin Immunol. 2014 Apr 17. [Epub ahead of print]

Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing.
Salipante SJ, Fromm JR, Shendure J, Wood BL, Wu D.
Mod Pathol. 2014 Apr 18. [Epub ahead of print]

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, et al.
Eur J Paediatr Neurol. 2014 Apr 8. [Epub ahead of print]

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Purnell SM, Bleyl SB, Bonkowsky JL.
Pediatr Neurol. 2014 Feb 10. [Epub ahead of print]

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.
Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, et al.
Orphanet J Rare Dis. 2014 Apr 17;9(1):57.

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
Behlouli A, Bonnet C, Abdi S, Bouaita A, et al.
Orphanet J Rare Dis. 2014 Apr 17;9(1):55.

Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis.
Kemppinen A, Baker A, Liao W, Fiddes B, et al.
Mult Scler. 2014 Apr 16. [Epub ahead of print]

Maternal plasma RNA sequencing for genomewide transcriptomic profiling and identification of pregnancy-associated transcripts.
Tsui NB, Jiang P, Wong YF, Leung TY, et al.
Clin Chem. 2014 Apr 16. [Epub ahead of print]

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.
Bureau A, Younkin S, Parker MM, Bailey-Wilson JE, et al.
Bioinformatics. 2014 Apr 16. [Epub ahead of print]

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Cheon CK, Sohn YB, Ko JM, Lee YJ, et al.
J Hum Genet. 2014 Apr 17. [Epub ahead of print]

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
Ajmal M, Khan MI, Neveling K, Khan YM, et al.
J Med Genet. 2014 Apr 15. [Epub ahead of print]

Genomic profiling of hepatocellular adenomas reveals recurrent FRK-activating mutations and the mechanisms of malignant transformation.
Pilati C, Letouzé E, Nault JC, Imbeaud S, et al.
Cancer Cell. 2014 Apr 14;25(4):428-41.

Identification of mRNAs and lincRNAs associated with lung cancer progression using next-generation RNA sequencing from laser micro-dissected archival FFPE tissue specimens.
Morton ML, Bai X, Merry CR, Linden PA, et al.
Lung Cancer. 2014 Mar 29. [Epub ahead of print]

A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.
Zhang Y, Lu G, Hu Q, Wang X, et al.
Biochem Biophys Res Commun. 2014 Apr 12. [Epub ahead of print]

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Kurian AW, Hare EE, Mills MA, Kingham KE, et al.
J Clin Oncol. 2014 Apr 14. [Epub ahead of print]

An international multicenter study on HIV-1 drug resistance testing by 454 ultra-deep pyrosequencing.
Simen BB, Braverman MS, Abbate I, Aerssens J, et al.
J Virol Methods. 2014 Apr 11. [Epub ahead of print]