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European Journal of Medical Genetics|September 26, 2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutationClaire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, et al.
Plos Genetics|September 15, 2010
The characterization of twenty sequenced human genomesKimberly Pelak, Kevin V Shianna, Dongliang Ge, et al.
Studies in Health Technology and Informatics|June 24, 2020
SPHN/PHRT - MedCo in Action: Empowering the Swiss Molecular Tumor Board with Privacy-Preserving and Real-Time Patient DiscoveryJean Louis Raisaro, Juan Ramòn Troncoso-Pastoriza, Sylvain Pradervand, et al.
Frontiers in Immunology|October 30, 2016
Corrigendum: Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired <i>Pseudomonas aeruginosa</i> SepsisSamira Asgari, Paul J McLaren, Jane Peake, et al.
American Journal of Human Genetics|April 17, 2007
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1AErin L Heinzen, Woohyun Yoon, Sarah K Tate, et al.
Genetic Epidemiology|February 12, 2020
Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analysesMengqi Zhang, Sahar Gelfman, Janice McCarthy, et al.
American Journal of Human Genetics|May 20, 2014
Utilizing population controls in rare-variant case-parent association testsYu Jiang, Glen A Satten, Yujun Han, et al.
The Journal of Infectious Diseases|October 3, 2017
Evaluating the Impact of Functional Genetic Variation on HIV-1 ControlPaul J McLaren, Sara L Pulit, Deepti Gurdasani, et al.
Frontiers in Immunology|October 6, 2016
Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired <i>Pseudomonas aeruginosa</i> SepsisSamira Asgari, Paul J McLaren, Jane Peake, et al.
Microbiome|September 15, 2019
A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individualsPetar Scepanovic, Flavia Hodel, Stanislas Mondot, et al.
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