Edvardson S, Nicolae CM, Agrawal PB, et al. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet. 2017;101(2):267-273. doi:10.1016/j.ajhg.2017.07.002
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Ó³»´«Ã½
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- This is Ó³»´«Ã½ Learn about our mission, our values, our history, and partner institutions.
- People Meet our members, staff scientists, fellows, leadership, and other Ó³»´«Ã½ies.
- Join Ó³»´«Ã½ Find out how to join the Ó³»´«Ã½ as an employee or associate member.
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Research
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Science
- Patient-partnered research Patients partner with our scientists to accelerate the pace of discovery and find better treatments.
- Partnering and licensing We work closely with pharmaceutical, biotech, and technology partners to accelerate the translation of our discoveries.
- Publications A catalog of scientific papers published by our members and staff scientists.
- Resources, services, and tools Key scientific datasets and computational tools developed by our scientists and their collaborators.
- Collaborations and consortia We join with institutions and scientists the world over to address foundational challenges in science and health.
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Centers
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- Carlos Slim Center for Health Research The Slim Center aims to bring the benefits of genomics-driven medicine to Latin America, gleaning new insights into diseases with relevance to the region.
- Gerstner Center for Cancer Diagnostics The Gerstner Center is developing next-generation diagnostic technology for cancer detection and tracking disease progression.
- Klarman Cell Observatory The Klarman Cell Observatory is systematically defining mammalian cellular circuits, how they work together to create tissues and organs, and are perturbed to cause disease.
- Merkin Institute for Transformative Technologies in Healthcare The Merkin Institute is supporting early-stage ideas aimed at advancing powerful technological approaches for improving how we understand and treat disease.
- Novo Nordisk Foundation Center for Genomic Mechanisms of Disease This center is developing new paradigms and technologies to scale the discovery of biological mechanisms of common, complex diseases, by facilitating close collaborations between the Ó³»´«Ã½ and the Danish research community.
- Eric and Wendy Schmidt Center The EWSC is catalyzing a new field of interdisciplinary research at the intersection of data science and life science, aimed at improving human health.
- Stanley Center for Psychiatric Research The Stanley Center aims to reduce the burden of serious mental illness by contributing new insights into pathogenesis, identifying biomarkers, and paving the way toward new treatments.
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Education and outreach
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- Art and science connection Explore the connection between art and science and how we bring together artists and Ó³»´«Ã½ scientists through our artist-in-residence program, gallery exhibitions, and ongoing public conversations.
- Ó³»´«Ã½ Discovery Center Visit our free public educational space that showcases how researchers at the Ó³»´«Ã½ and their colleagues around the world seek to understand and treat human disease.
- Learning resources Access free classroom materials and more for STEM educators, parents, students, tutors, and others.
- Public programs Discover remarkable stories of scientific progress, and explore the intersections of science, medicine, and society.
- Student opportunities Learn about Ó³»´«Ã½'s mentored research offerings for high school students, college students, and recent college graduates.
- Visit Ó³»´«Ã½ Come see what Ó³»´«Ã½ is all about.
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