NCMLS award for breakthrough paper of 2011


Frank van de Veerdonk et al. have received the NCMLS award for breakthrough paper of 2011 during our new years affairs and drink.

Motivation of the jury:
Strong points are the multidisciplinary nature of this paper and the important clinical application of this finding. Using a clever set-up, the best candidate genes were selected and using cutting-edge sequencing technology, heterozygous mutations were found in the STAT1 gene in patients with chronic mucocutaneous candidiasis. This is one of a few examples in which a genetic cause can be linked to an increased susceptibility to fungal infections.

The New England Journal of Medicine is the top-ranking medical journal which led to an optimal exposure of this breakthrough paper.

van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG
"STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis"
N Engl J Med 365: 54-61, 2011.

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