Search Results - "Staples, Jeffrey C"

Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes by Mansour Aly, Dina, Dwivedi, Om Prakash, Prasad, Rashmi B., Käräjämäki, Annemari, Hjort, Rebecka, Thangam, Manonanthini, Åkerlund, Mikael, Mahajan, Anubha, Udler, Miriam S., Florez, Jose C., McCarthy, Mark I., Brosnan, Julia, Melander, Olle, Carlsson, Sofia, Hansson, Ola, Tuomi, Tiinamaija, Groop, Leif, Ahlqvist, Emma

“…Type 2 diabetes has been reproducibly clustered into five subtypes with different disease progression and risk of complications; however, etiological…”
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238-LB: Prevalence of GCK-MODY in 92,412 Exomes from an Unselected Clinical Population by MIRSHAHI, UYENLINH L., GOEHRINGER, JESSICA M., HU, YING, WARDEH, AMR H., WILLIAMS, JANET, MANNEY, CATARINA B., STAPLES, JEFFREY C., LEADER, JOSEPH B., SHULDINER, ALAN R., POLLIN, TONI I., CAREY, DAVID J.

“…Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes attributed to a highly penetrant variant in one of several genes, including GCK…”
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Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations by Boer, Cindy G., Hatzikotoulas, Konstantinos, Southam, Lorraine, Zhang, Yanfei, Coutinho de Almeida, Rodrigo, Wu, Tian T., Zheng, Jie, Hartley, April, Teder-Laving, Maris, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Bjornsdottir, Gyda, Gilly, Arthur, Ingvarsson, Thorvaldur, Luetge, Almut, Lund, Sigrun H., Mangino, Massimo, Takuwa, Hiroshi, Thomas, Laurent F., Loughlin, John, Arden, Nigel, Doherty, Michael, Ollier, William E.R., Spector, Tim D., Wallis, Gillian A., Martinsen, Amy E., Fors, Egil Andreas, Hagen, Knut, Nilsen, Kristian Bernhard, Lie, Marie Udnesseter, Børte, Sigrid, Brumpton, Ben, Fritsche, Lars G., Zhou, Wei, Heuch, Ingrid, Storheim, Kjersti, Tyrpenou, Evangelos, Koukakis, Athanasios, Efstathios, Chronopoulos, Nikolaou, Vasileios S., Malizos, Konstantinos, Anastasopoulou, Lydia, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Lotta, Luca A., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Bai, Xiaodong, Balasubramanian, Suganthi, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Maxwell, Evan K., Orelus, Max, Panea, Razvan, Polanco, Tommy, Salerno, William, Staples, Jeffrey C., Li, Dadong, Sharma, Deepika, Banerjee, Ilanjana, Locke, Adam, Haas, Mary, Akbari, Parsa, Ferreira, Manuel A.R., Jones, Marcus B., Mitnaul, Lyndon J., Babis, George C., Cheung, Jason Pui Yin, Kang, Jae Hee, Lietman, Steven A., Samartzis, Dino, Stefansson, Kari, Uitterlinden, André G., Davey Smith, George, Valdes, Ana M., Tsezou, Aspasia, Cheah, Kathryn S.E., Hveem, Kristian, Wilkinson, J. Mark, Meulenbelt, Ingrid, Lee, Ming Ta Michael, van Meurs, Joyce B.J., Styrkársdóttir, Unnur, Zeggini, Eleftheria

“…Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517…”
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Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis by Vujkovic, Marijana, Keaton, Jacob M., Lynch, Julie A., Miller, Donald R., Zhou, Jin, Tcheandjieu, Catherine, Huffman, Jennifer E., Assimes, Themistocles L., Lorenz, Kimberly, Zhu, Xiang, Hilliard, Austin T., Judy, Renae L., Huang, Jie, Lee, Kyung M., Klarin, Derek, Pyarajan, Saiju, Danesh, John, Melander, Olle, Rasheed, Asif, Mallick, Nadeem H., Hameed, Shahid, Qureshi, Irshad H., Afzal, Muhammad Naeem, Malik, Uzma, Jalal, Anjum, Abbas, Shahid, Sheng, Xin, Gao, Long, Kaestner, Klaus H., Susztak, Katalin, Sun, Yan V., DuVall, Scott L., Cho, Kelly, Lee, Jennifer S., Gaziano, J. Michael, Phillips, Lawrence S., Meigs, James B., Reaven, Peter D., Wilson, Peter W., Edwards, Todd L., Rader, Daniel J., Damrauer, Scott M., O’Donnell, Christopher J., Tsao, Philip S., Chang, Kyong-Mi, Voight, Benjamin F., Saleheen, Danish

“…We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis of 228,499 cases and 1,178,783 controls in the Million Veteran…”
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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank by Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., Reid, Jeffrey G.

“…The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that…”
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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.

“…Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete…”
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High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease by Tcheandjieu, Catherine, Xiao, Ke, Tejeda, Helio, Lynch, Julie A., Ruotsalainen, Sanni, Bellomo, Tiffany, Palnati, Madhuri, Judy, Renae, Klarin, Derek, Kember, Rachel L., Verma, Shefali, Palotie, Aarno, Daly, Mark, Ritchie, Marylyn, Rader, Daniel J., Rivas, Manuel A., Assimes, Themistocles, Tsao, Philip, Damrauer, Scott, Priest, James R.

“…Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a leading cause of morbidity in the developed world. Here we performed…”
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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms by Ward, Lucas D., Tu, Ho-Chou, Quenneville, Chelsea B., Tsour, Shira, Flynn-Carroll, Alexander O., Parker, Margaret M., Deaton, Aimee M., Haslett, Patrick A. J., Lotta, Luca A., Verweij, Niek, Ferreira, Manuel A. R., Baras, Aris, Hinkle, Gregory, Nioi, Paul

“…Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine…”
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Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals by Kember, Rachel L., Merikangas, Alison K., Verma, Shefali S., Verma, Anurag, Judy, Renae, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., Mitnaul, Lyndon J., Damrauer, Scott M., Ritchie, Marylyn D., Rader, Daniel J., Bućan, Maja

“…Prediction of disease risk is a key component of precision medicine. Common traits such as psychiatric disorders have a complex polygenic architecture, making…”
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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes by Deaton, Aimee M., Parker, Margaret M., Ward, Lucas D., Flynn-Carroll, Alexander O., BonDurant, Lucas, Hinkle, Gregory, Akbari, Parsa, Lotta, Luca A., Baras, Aris, Nioi, Paul

“…Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used…”
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Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study by Sun, Jiangming, Borné, Yan, Edsfeldt, Andreas, Wang, Yunpeng, Pan, Mengyu, Melander, Olle, Engström, Gunnar, Gonçalves, Isabel

“…Mood disorders and strokes are often comorbid, and their health toll worldwide is huge. This study characterizes prognostic and causal roles of mood disorders…”
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MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk by Surakka, Ida, Fritsche, Lars G., Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben, Nielsen, Jonas B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn O., Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel, Stefansson, Kari, Baras, Aris, Abecasis, Goncalo R., Hveem, Kristian, Willer, Cristen J.

“…A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants…”
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Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection by Zhang, Chao, Verma, Anurag, Feng, Yuanqing, Melo, Marcelo C R, McQuillan, Michael, Hansen, Matthew, Lucas, Anastasia, Park, Joseph, Ranciaro, Alessia, Thompson, Simon, Rubel, Meagan A, Campbell, Michael C, Beggs, William, Hirbo, Jibril, Wata Mpoloka, Sununguko, George Mokone, Gaonyadiwe, Nyambo, Thomas, Wolde Meskel, Dawit, Belay, Gurja, Fokunang, Charles, Njamnshi, Alfred K, Omar, Sabah A, Williams, Scott M, Rader, Daniel J, Ritchie, Marylyn D, de la Fuente-Nunez, Cesar, Sirugo, Giorgio, Tishkoff, Sarah A

“…Human genomic diversity has been shaped by both ancient and ongoing challenges from viruses. The current coronavirus disease 2019 (COVID-19) pandemic caused by…”
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Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study by Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, Mitnaul, Lyndon J.

“…Background Severe alpha‐1‐antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case‐control study. Objectives…”
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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank by Wang, Louise, Desai, Heena, Verma, Shefali S., Le, Anh, Hausler, Ryan, Verma, Anurag, Judy, Renae, Doucette, Abigail, Gabriel, Peter E., Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Blumenfeld, Andrew, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lotta, Luca A., Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Overton, John D., Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Pradhan, Manasi, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Nathanson, Katherine L., Damrauer, Scott M., Mowery, Danielle L., Ritchie, Marylyn D., Kember, Rachel L., Maxwell, Kara N.

“…Genome-wide association studies have identified hundreds of single nucleotide variations (formerly single nucleotide polymorphisms) associated with several…”
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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

“…[...]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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Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies by Cavazos, Taylor B, Kachuri, Linda, Graff, Rebecca E, Nierenberg, Jovia L, Thai, Khanh K, Alexeeff, Stacey, Van Den Eeden, Stephen, Corley, Douglas A, Kushi, Lawrence H, Hoffmann, Thomas J, Ziv, Elad, Habel, Laurel A, Jorgenson, Eric, Sakoda, Lori C, Witte, John S

“…Up to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to…”
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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

“…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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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 by Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

“…Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia,…”
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Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study by Manderstedt, Eric, Halldén, Christer, Lind-Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A, Zöller, Bengt

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