Skip to main content

Clinical Sequencing Papers of Note: Mar 22, 2011


Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Santín S, Bullich G, Tazón-Vega B, et al.
Clin J Am Soc Nephrol. 2011 Mar 17.

Spectrum of mutations in gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, et al.
J Am Soc Nephrol. 2011 Mar 17.

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.
Tsurusaki Y, Osaka H, Hamanoue H, et al.
J Med Genet. 2011 Mar 17.

A method to sequence and quantify DNA integration for monitoring outcome in gene therapy.
Brady T, Roth SL, Malani N, et al.
Nucleic Acids Res. 2011 Mar 16.

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
Kitiratschky VB, Glöckner CJ, Kohl S.
Ophthalmic Genet. 2011 Mar 15.

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.
Ary LK, Kumar AB, Shetty S, et al.
Ophthalmic Genet. 2011 Mar 15.

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.
Yamaguchi T, Hosomichi K, Narita A, et al.
J Bone Miner Res. 2011 Mar 14.

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Xin B, Jones S, Puffenberger EG, et al.
Proc Natl Acad Sci USA. 2011 Mar 14.

Comparative whole genome sequence analysis of the carcinogenic bacterial model pathogen Helicobacter felis.
Arnold IC, Zigova Z, Holden M, et al.
Genome Biol Evol. 2011 Mar 14.

The Scan

WHO OKs Emergency Use of Sinopharm Vaccine

The World Health Organization has granted emergency approval for Sinopharm's SARS-CoV-2 vaccine, the Guardian reports.

Scientific Integrity Panel to Meet

According to the Associated Press, a new US scientific integrity panel is to meet later this week.

Trying in the Eye

NPR reports that a study of Editas Medicine's CRISPR therapy for Leber congenital amaurosis has begun.

PLOS Papers on Cerebellum Epigenetics, Copy Number Signature Tool, Acute Lung Injury Networks

In PLOS this week: epigenetics analysis of brain tissue, bioinformatics tool to find copy number signatures in cancer, and more.