Hasil Pencarian - DiscovEHR Collaboration

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  1. 1
    Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

    Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes oleh Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi

    Diterbitkan 2021-11-01
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  2. 2
    Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

    Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population oleh Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration

    Diterbitkan 2019-05-01
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  3. 3
    Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

    Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population oleh Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration

    Diterbitkan 2019-05-01
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  4. 4
    Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

    Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis oleh Pavel Loginovic, Feiyi Wang, Jiang Li, Lauric Ferrat, Uyenlinh L. Mirshahi, H. Shanker Rao, Axel Petzold, Jessica Tyrrell, Harry D. Green, Michael N. Weedon, Andrea Ganna, Tiinamaija Tuomi, David J. Carey, UKBB Eye & Vision Consortium, FinnGen, Geisinger-Regeneron DiscovEHR Collaboration, Richard A. Oram, Tasanee Braithwaite

    Diterbitkan 2024-02-01
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  5. 5
    GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

    GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms oleh Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi

    Diterbitkan 2021-07-01
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  6. 6
    Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

    Population-scale analysis of common and rare genetic variation associated with hearing loss in adults oleh Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola

    Diterbitkan 2022-06-01
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  7. 7
    ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

    ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma oleh Kavita Praveen, Gaurang C. Patel, Lauren Gurski, Ariane H. Ayer, Trikaladarshi Persaud, Matthew D. Still, Lawrence Miloscio, Tavé Van Zyl, Silvio Alessandro Di Gioia, Ben Brumpton, Kristi Krebs, Bjørn Olav Åsvold, Esteban Chen, Venkata R. M. Chavali, Wen Fury, Harini V. Gudiseva, Sarah Hyde, Eric Jorgenson, Stephanie Lefebvre, Dadong Li, Alexander Li, James Mclninch, Brijeshkumar Patel, Jeremy S. Rabinowitz, Rebecca Salowe, Claudia Schurmann, Anne-Sofie Seidelin, Eli Stahl, Dylan Sun, Tanya M. Teslovich, Anne Tybjærg-Hansen, Cristen Willer, Scott Waldron, Sabrina Walley, Hua Yang, Sarthak Zaveri, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Estonian Biobank Research Team, Ying Hu, Kristian Hveem, Olle Melander, Lili Milani, Stefan Stender, Joan M. O’Brien, Marcus B. Jones, Gonçalo R. Abecasis, Michael N. Cantor, Jonathan Weyne, Katia Karalis, Aris Economides, Giusy Della Gatta, Manuel A. Ferreira, George D. Yancopoulos, Aris Baras, Carmelo Romano, Giovanni Coppola

    Diterbitkan 2022-10-01
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  8. 8
    Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

    Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes oleh Parsa Akbari, Olukayode A. Sosina, Jonas Bovijn, Karl Landheer, Jonas B. Nielsen, Minhee Kim, Senem Aykul, Tanima De, Mary E. Haas, George Hindy, Nan Lin, Ian R. Dinsmore, Jonathan Z. Luo, Stefanie Hectors, Benjamin Geraghty, Mary Germino, Lampros Panagis, Prodromos Parasoglou, Johnathon R. Walls, Gabor Halasz, Gurinder S. Atwal, Regeneron Genetics Center, DiscovEHR Collaboration, Marcus Jones, Michelle G. LeBlanc, Christopher D. Still, David J. Carey, Alice Giontella, Marju Orho-Melander, Jaime Berumen, Pablo Kuri-Morales, Jesus Alegre-Díaz, Jason M. Torres, Jonathan R. Emberson, Rory Collins, Daniel J. Rader, Brian Zambrowicz, Andrew J. Murphy, Suganthi Balasubramanian, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Michael Cantor, Goncalo R. Abecasis, Manuel A. R. Ferreira, Mark W. Sleeman, Viktoria Gusarova, Judith Altarejos, Charles Harris, Aris N. Economides, Vincent Idone, Katia Karalis, Giusy Della Gatta, Tooraj Mirshahi, George D. Yancopoulos, Olle Melander, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Niek Verweij, Luca A. Lotta

    Diterbitkan 2022-08-01
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