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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

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.