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Stefania Benonisdottir on Muck Rack

Stefania Benonisdottir

As seen in: Nature, PLOS Medicine, Science Magazine, BioRxiv, The American Journal of Human Genetics
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Articles

Phenomic profiles and disease patterns of 1.9 million participants from Our Future Health

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By Vincent Straub, Stefania Benonisdottir, Neil Wary, Robert Campbell, Augustine Kong, Melinda Mills, Giovanni Scotti Bentivoglio
| Nature Verified
Abstract Our Future Health is a prospective study aiming to recruit 5 million UK-resident adults to enable discovery and translation of disease prevention, detection and treatment approaches. So far, more than 2.5 million have enrolled, and baseline phenotypic data are available for >1.9 million participants.
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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

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By Kimberley Anderson, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif A.M. Almontashiri, Brenda J. Barry, Matthias Begemann, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles de Diego Boguñá, Evan E. Eichler, Elizabeth Engle, Jill A Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Mina Grippa, Jacqueline Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney C. Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel Robin, Carey Ronspies, Jasmin Roohi, Jill A. Rosenfeld, Margarita Saenz, Carol Saunders, Zornitza Stark, Isabelle Thiffault, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay O. Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kari Stefansson, Agnar Helgason, Gregory Bowman, Hans Tomas Bjornsson, Eirny Tholl Thorolfsdottir, Jacquelyn F. Britton, Meral Aktas Koptagel, Farah A. Ladha, Andreina Minicucci, Sarah Thull
| The American Journal of Human Genetics Verified
Keywords CHD1 Mendelian disease sex differences neurodevelopmental disorder Introduction Traditionally, autosomal-dominant disorders have been considered to have limited sex differences, unlike X-linked disorders defined by this feature.
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Studying the genetics of participation using footprints left on the ascertained genotypes - Nature Genetics

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By Stefania Benonisdottir, Augustine Kong
| Nature Verified
Genetic data The UKBB has a Research Tissue Bank approval (Research Ethics Committee reference 21/NW/0157) from the North West Multicenter Research Ethics Committee, and all participants gave informed consent. For our data application, we used the UKBB 500K data release previously described by Bycroft et al.13.
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