Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.
Park J, Hyun YS, Kim YJ, Nam SH, et al.
J Clin Neurol. 2013 Oct;9(4):283-288.


Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
Adly N, Alhashem A, Ammari A, Alkuraya FS.
Hum Mutat. 2013 Nov 6. [Epub ahead of print]

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Fareed Zakaria writes that instead of focusing solely on STEM-related courses, students would do well to pursue the liberal arts if they want to be technology innovators.

A Harvard Business Review study found four major patterns of gender biases and added that black and Latina scientists further had to navigate racial stereotypes.

In PLOS this week: variant linked to canine cleft lip, new compression tool, and more.

GNC will start using DNA testing to authentic the presence of plants included in its labels, following an agreement with the New York Attorney General.

Apr
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This live online seminar will highlight recent trends in applying next-generation sequencing in the clinical setting, with a particular focus on oncology and rare disease.