Search Results - "Polanco, Tommy"

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    Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank by Jurgens, Sean J, Choi, Seung Hoan, Morrill, Valerie N, Chaffin, Mark, Pirruccello, James P, Halford, Jennifer L, Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W, Oetjens, Matthew T, Lagerman, Braxton, Vanmaanen, David P, Aragam, Krishna G, Lunetta, Kathryn L, Haggerty, Christopher M, Lubitz, Steven A, Ellinor, Patrick T, Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, De, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A R, sythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B, Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A, Manoochehri, Kia, Mansfield, Adam J, Maxwell, Evan K, Mighty, Jason, Mitnaul, Lyndon J, Nafde, Mona, Nielsen, Jonas, O'Keeffe, Sean, Orelus, Max, Overton, John D, Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G, Salerno, William, Schleicher, Thomas D, Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C, Ulloa, Ricardo H, Verweij, Niek, Widom, Louis, Wolf, Sarah E

    Published in Nature genetics (01-03-2022)
    “…[...]exome sequencing-which is focused on the protein-coding regions of the genome-may directly implicate genes in phenotype variability through burden testing…”
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    Journal Article
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    Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study by Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J, Dahlbäck, Björn, Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A, Zöller, Bengt

    Published in Journal of the American Heart Association (15-02-2022)
    “…Background Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S,…”
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    Journal Article
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    PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients by Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., Verma, Anurag, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Fuller, Erin D., Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Bao, Suying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Backman, Joshua, Damask, Amy, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Locke, Adam, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Ye, Bin, Coppola, Giovanni, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Abecasis, Goncalo, Baras, Aris, Deubler, Andrew, Economides, Aris, Lotta, Luca A.

    Published in Genetics in Medicine Open (2024)
    “…This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2…”
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    Journal Article
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