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Last Week's Clinical Sequencing Papers of Note: Mar 12, 2014


Comparative genomic analysis of primary and synchronous metastatic colorectal cancers.
Lee SY, Haq F, Kim D, Jun C, et al.
PLOS One. 2014 Mar 5;9(3):e90459.

Microbiota present in cystic fibrosis lungs as revealed by whole genome sequencing.
Hauser PM, Bernard T, Greub G, Jaton K, et al.
PLOS One. 2014 Mar 5;9(3):e90934.

SLC25A22 is a novel gene for migrating partial seizures in infancy.
Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, et al.
Ann Neurol. 2013 Dec;74(6):873-82.

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
Villanueva A, Willer J, Bryois J, Dermitzakis E, et al.
Invest Ophthalmol Vis Sci. 2014 Mar 4. [Epub ahead of print]

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, et al.
Nat Commun. 2014 Mar 4;5:3416.

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Couthouis J, Raphael AR, Siskind C, Findlay AR , et al.
Neuromuscul Disord. 2014 Feb 10. [Epub ahead of print]

Addressing the ethical challenges in genetic testing and sequencing of children.
Clayton EW, McCullough LB, Biesecker LG, Joffe S, et al.
Clinical Am J Bioeth. 2014 Mar;14(3):3-9.

Identification of functional anti-Staphylococcus aureus antibodies by sequencing patient plasmablast antibody repertoires.
Lu DR, Tan YC, Kongpachith S, Cai X, et al.
Clin Immunol. 2014 Feb 28. [Epub ahead of print]

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, et al.
J Allergy Clin Immunol. 2014 Feb 28. [Epub ahead of print]

HIV-1 transmission patterns in antiretroviral therapy-naïve, HIV-infected North Americans based on phylogenetic analysis by population level and ultra-deep DNA sequencing.
Ross LL, Horton J, Hasan S, Brown JR, et al.
PLOS One. 2014 Feb 26;9(2):e89611.

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Su Y, Tang WX, Gao X, Yu F, et al.
PLOS One. 2014 Feb 21;9(2):e89240.

Identification of serum microRNA biomarkers for tuberculosis using RNA-seq.
Zhang H, Sun Z, Wei W, Liu Z, et al.
PLOS One. 2014 Feb 20;9(2):e88909.

Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies.
Hudecova I, Sahota D, Heung MM, Jin Y, et al.
PLOS One. 2014 Feb 28;9(2):e88484.

A compositional look at the human gastrointestinal microbiome and immune activation parameters in HIV infected subjects.
Mutlu EA, Keshavarzian A, Losurdo J, Swanson G, et al.
PLOS Pathog. 2014 Feb 20;10(2):e1003829.

Molecular analysis of Fanconi anemia: the experience of the bone marrow failure study group of the Italian association of pediatric onco-hematology.
De Rocco D, Bottega R, Cappelli E, Cavani S, et al.
Haematologica. 2014 Feb 28. [Epub ahead of print]

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, Thorleifsson G, Beer NL, Jacobs SB, et al.
Nat Genet. 2014 Mar 2. [Epub ahead of print]

A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma.
Yoo HY, Sung MK, Lee SH, Kim S, et al.
Nat Genet. 2014 Mar 2. [Epub ahead of print]

CTLA4 blockade broadens the peripheral T cell receptor repertoire.
Robert L, Tsoi J, Wang X, Emerson RO, et al.
Clin Cancer Res. 2014 Feb 28. [Epub ahead of print]

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S.
Eur J Med Genet. 2014 Feb 26. [Epub ahead of print]

Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis.
Jin M, Zhu S, Hu P, Liu D, et al.
Am J Kidney Dis. 2014 Feb 27. [Epub ahead of print]

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.
Yang T, Meng Y, Wei X, Shen J, et al.
Clin Chim Acta. 2014 Feb 25. [Epub ahead of print]

High-throughput sequencing for the identification of NOTCH1 mutations in early stage chronic lymphocytic leukaemia: biological and clinical implications.
Lionetti M, Fabris S, Cutrona G, Agnelli L, et al.
Br J Haematol. 2014 Mar 2. [Epub ahead of print]

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL, Hüning I, Gilissen C, Klepper J, et al.
Epilepsia. 2014 Mar 1. [Epub ahead of print]