Skip to main content
Premium Trial:

Request an Annual Quote

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.