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Last Week's Clinical Sequencing Papers of Note: Feb 26, 2014


Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, et al.
Eur Heart J. 2014 Feb 20. [Epub ahead of print]

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A1, Petkova MV, Lützkendorf S, Heinemeyer J, et al.
J Med Genet. 2014 Feb 20. [Epub ahead of print]

Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes.
Udpa N, Ronen R, Zhou D, Liang J, et al.
Genome Biol. 2014 Feb 20;15(2):R36.

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing.
Lines MA, Jobling R, Brady L, Marshall CR, et al.
Neurology. 2014 Feb 19. [Epub ahead of print]

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy.
Mack SC, Witt H, Piro RM, Gu L, et al.
Nature. 2014 Feb 19. [Epub ahead of print]

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Elkan PN, Pierce SB, Segel R, Walsh T, et al.
N Engl J Med. 2014 Feb 19. [Epub ahead of print]

Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, et al.
N Engl J Med. 2014 Feb 19. [Epub ahead of print]

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L, Krieger S, Rousselin A, Legros A, et al.
Eur J Hum Genet. 2014 Feb 19. [Epub ahead of print]

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
Joshi M, Eagan J, Desai NK, Newton SA, et al.
Eur J Hum Genet. 2014 Feb 19. [Epub ahead of print]

Public views on participating in newborn screening using genome sequencing.
Bombard Y, Miller FA, Hayeems RZ, Barg C, et al.
Eur J Hum Genet. 2014 Feb 19. [Epub ahead of print]

Deep sequencing reveals lack of a clonal relationship between a metachronous classical Hodgkin and diffuse large B-cell lymphoma.
Siddiqi IN, Ailawadhi S, Huang Q, Shibata RK, et al.
Clin Lymphoma Myeloma Leuk. 2014 Jan 4. [Epub ahead of print]

Advantage of whole exome sequencing over allele-specific and targeted segment sequencing, in detection of novel TULP1 mutation in Leber congenital amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, et al.
Ophthalmic Genet. 2014 Feb 19. [Epub ahead of print]

Heavy-light chain interrelations of MS-associated immunoglobulins probed by deep sequencing and rational variation.
Lomakin YA, Zakharova MY, Stepanov AV, Dronina MA, et al.
Mol Immunol. 2014 Feb 14. [Epub ahead of print]

T cell repertoire following autologous stem cell transplantation for multiple sclerosis.
Muraro PA, Robins H, Malhotra S, Howell M, et al.
J Clin Invest. 2014 Feb 17. [Epub ahead of print]

Activation of TAK1 by MYD88 L265P drives malignant B-cell growth in non-Hodgkin lymphoma.
Ansell SM, Hodge LS, Secreto FJ, Manske M, et al.
Blood Cancer J. 2014 Feb 14;4:e183.

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, et al.
Nat Genet. 2014 Feb 16. [Epub ahead of print]

Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma.
Gunawardana J, Chan FC, Telenius A, Woolcock B, et al.
Nat Genet. 2014 Feb 16. [Epub ahead of print]

Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets.
Daber R, Sukhadia S, Morrissette JJ.
Cancer Genet. 2013 Dec;206(12):441-448.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.