PMC Links for Nucleotide (Select 568336000) - PMC

Select item 66639161.

Proficiency Testing of Virus Diagnostics Based on Bioinformatics Analysis of Simulated In Silico High-Throughput Sequencing Data Sets

Annika Brinkmann, Andreas Andrusch, Ariane Belka, Claudia Wylezich, Dirk Höper, Anne Pohlmann, Thomas Nordahl Petersen, Pierrick Lucas, Yannick Blanchard, Anna Papa, Angeliki Melidou, Bas B. Oude Munnink, Jelle Matthijnssens, Ward Deboutte, Richard J. Ellis, Florian Hansmann, Wolfgang Baumgärtner, Erhard van der Vries, Albert Osterhaus, Cesare Camma, Iolanda Mangone, Alessio Lorusso, Maurilia Marcacci, Alexandra Nunes, Miguel Pinto, Vítor Borges, Annelies Kroneman, Dennis Schmitz, Victor Max Corman, Christian Drosten, Terry C. Jones, Rene S. Hendriksen, Frank M. Aarestrup, Marion Koopmans, Martin Beer, Andreas Nitsche

J Clin Microbiol. 2019 Aug; 57(8): e00466-19. Prepublished online 2019 Jun 5. Published online 2019 Jul 26. doi: 10.1128/JCM.00466-19

PMCID:: PMC6663916

Abstract Article PDF–981K

Select item 61292692.

PAIPline: pathogen identification in metagenomic and clinical next generation sequencing samples

Andreas Andrusch, Piotr W Dabrowski, Jeanette Klenner, Simon H Tausch, Claudia Kohl, Abdalla A Osman, Bernhard Y Renard, Andreas Nitsche

Bioinformatics. 2018 Sep 1; 34(17): i715–i721. Published online 2018 Sep 8. doi: 10.1093/bioinformatics/bty595

PMCID:: PMC6129269

Abstract Article PDF–464K

Select item 37233103.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Mani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F. Schorderet, Anne M. Slavotinek

Hum Mol Genet. 2013 Aug 15; 22(16): 3250–3258. Published online 2013 Apr 15. doi: 10.1093/hmg/ddt179

PMCID:: PMC3723310

Abstract Article PDF–401K

Select item 33091814.

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer

Am J Hum Genet. 2012 Mar 9; 90(3): 502–510. doi: 10.1016/j.ajhg.2012.01.006

PMCID:: PMC3309181

Abstract Article PDF–458K

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