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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

Bit of Each

The US Food and Drug Administration is considering a plan that would allow for the mixing-and-matching of SARS-CoV-2 vaccines and boosters, the New York Times says.

Closest to the Dog

New Scientist reports that extinct Japanese wolf appears to be the closest known wild relative of dogs.

Offer to Come Back

The Knoxville News Sentinel reports that University of Tennessee is offering Anming Hu, a professor who was acquitted of charges that he hid ties to China, his position back.

PNAS Papers on Myeloid Differentiation MicroRNAs, Urinary Exosomes, Maize Domestication

In PNAS this week: role of microRNAs in myeloid differentiation, exosomes in urine, and more.