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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 24, 2012


Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf NI, et al.
Hum Mutat. 2012 Oct 19. doi: 10.1002/humu.22241. [Epub ahead of print]

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Barcia G, Fleming MR, Deligniere A, Gazula VR, et al.
Nat Genet. 2012 Oct 21. [Epub ahead of print]

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Heron SE, Smith KR, Bahlo M, Nobili L, Kahana et al.
Nat Genet. 2012 Oct 21. [Epub ahead of print]

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, et al.
Am J Hum Genet. 2012 Oct 17. [Epub ahead of print]

MATH, a novel measure of intratumor genetic heterogeneity, is high in poor-outcome classes of head and neck squamous cell carcinoma.
Mroz EA, Rocco JW.
Oral Oncol. 2012 Oct 15. [Epub ahead of print]

Clinical integration of next-generation sequencing technology.
Gullapalli RR, Lyons-Weiler M, Petrosko P, Dhir R, et al.
Clin Lab Med. 2012 Dec;32(4):585-99.

Extreme drug resistant Salmonella enteric Senftenberg infections from patients in Zambia.
Hendriksen RS, Joensen KG, Lukwesa-Musyani C, Kalondaa A, Leekitcharoenphon P,
J Clin Microbiol. 2012 Oct 17. [Epub ahead of print]

Conserved DNA methylation patterns in healthy blood cells and extensive changes in leukemia measured by a new quantitative technique.
Jelinek J, Liang S, Lu Y, He R, et al.
Epigenetics. 2012 Oct 17;7(12).

Deep sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia.
Faham M, Zheng J, Moorhead M, Carlton VE, et al.
Blood. 2012 Oct 16. [Epub ahead of print]

Direct isolation and RNA-seq reveal environment-dependent properties of engrafted neural stem/progenitor cells.
Kumamaru H, Ohkawa Y, Saiwai H, Yamada H, et al.
Nat Commun. 2012 Oct 16;3:1140.

Pathogenic characterization of a cervical lymph node derived from a patient with Kawasaki disease.
Katano H, Sato S, Sekizuka T, Kinumaki A, et al.
Int J Clin Exp Pathol. 2012;5(8):814-23.

The lung microbiome in moderate and severe chronic obstructive pulmonary disease.
Pragman AA, Kim HB, Reilly CS, Wendt C, Isaacson RE.
PLoS One. 2012;7(10):e47305.

Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing.
Liang WS, Craig DW, Carpten J, Borad MJ, et al.
PLoS One. 2012;7(10):e43192.

Real-time sequencing to decipher the molecular mechanism of resistance of a clinical pan-drug resistant Acinetobacter baumannii, Marseille, France.
Rolain JM, Diene SM, Kempf M, Gimenez G, et al.
Antimicrob Agents Chemother. 2012 Oct 15. [Epub ahead of print]

The Scan

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.

Estonian Biobank Team Digs into Results Return Strategies, Experiences

Researchers in the European Journal of Human Genetics outline a procedure developed for individual return of results for the population biobank, along with participant experiences conveyed in survey data.

Rare Recessive Disease Insights Found in Individual Genomes

Researchers predict in Genome Medicine cross-population deletions and autosomal recessive disease impacts by analyzing recurrent nonallelic homologous recombination-related deletions.

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.