Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.
Strom SP, Gorin MB.
Mol Vis. 2013 May 6;19:980-985.


LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O, Woerner S, Yang F, Oakeley EJ, et al.
J Am Soc Nephrol. 2013 May 16. [Epub ahead of print]

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Mary Beckerle has been removed as director of the Huntsman Cancer Institute in what one researcher refers to as a "coup," ScienceInsider reports.

Bill Gates tells the Telegraph that bioterrorism is a serious risk.

The March for Science is to take place tomorrow, and supporters are tapping their creative energies to create placards to carry.

CBS News reports that the White House Science Fair is to continue under President Donald Trump.

Apr
27
Sponsored by
SeraCare

This webinar is the third in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.

May
09
Sponsored by
SeraCare

This webinar is the last in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.