MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk von 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.

Volltext

Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals von Gao, Chuan, Marcketta, Anthony, Backman, Joshua D., O'Dushlaine, Colm, Staples, Jeffrey, Ferreira, Manuel Allen Revez, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Mirshahi, Tooraj, Regeneron Genetics Center, Geisinger Regeneron Discovehr Collaboration, Baras, Aris, Abecasis, Gonçalo, Shuldiner, Alan R., Van Hout, Cristopher V., McCarthy, Shane

Volltext

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease von Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

Volltext

Genotyping, sequencing and analysis of 140,000 adults from Mexico City von Ziyatdinov, Andrey, Torres, Jason, Alegre-Díaz, Jesús, Backman, Joshua, Mbatchou, Joelle, Turner, Michael, Gaynor, Sheila M., Joseph, Tyler, Zou, Yuxin, Liu, Daren, Wade, Rachel, Staples, Jeffrey, Panea, Razvan, Popov, Alex, Bai, Xiaodong, Balasubramanian, Suganthi, Habegger, Lukas, Lanche, Rouel, Lopez, Alex, Maxwell, Evan, Jones, Marcus, García-Ortiz, Humberto, Ramirez-Reyes, Raul, Santacruz-Benítez, Rogelio, Nag, Abhishek, Smith, Katherine R., Damask, Amy, Lin, Nan, Paulding, Charles, Reppell, Mark, Zöllner, Sebastian, Jorgenson, Eric, Salerno, William, Petrovski, Slavé, Overton, John, Reid, Jeffrey, Thornton, Timothy A., Abecasis, Gonçalo, Berumen, Jaime, Orozco-Orozco, Lorena, Collins, Rory, Baras, Aris, Hill, Michael R., Emberson, Jonathan R., Marchini, Jonathan, Kuri-Morales, Pablo, Tapia-Conyer, Roberto

Volltext

High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease von 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.

Volltext

A large meta-analysis identifies genes associated with anterior uveitis von Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni

Volltext

A deep catalogue of protein-coding variation in 983,578 individuals von Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi

Volltext

NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke von Rodriguez-Flores, Juan Lorenzo, Khalid, Shareef, Parikshak, Neelroop, Rasheed, Asif, Ye, Bin, Kapoor, Manav, Backman, Joshua, Sepehrband, Farshid, Gioia, Silvio Alessandro Di, Gelfman, Sahar, De, Tanima, Banerjee, Nilanjana, Sharma, Deepika, Martinez, Hector, Castaneda, Sofia, D’Ambrosio, David, Zhang, Xingmin A., Xun, Pengcheng, Tsai, Ellen, Tsai, I-Chun, Khan, Maleeha Zaman, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Mahmood, Khalid, Salam, Tanvir Us, Hussain, Muhammad, Iqbal, Javed, Aslam, Faizan, Cantor, Michael N., Tzoneva, Gannie, Overton, John, Marchini, Jonathan, Reid, Jeffrey G., Baras, Aris, Verweij, Niek, Lotta, Luca A., Coppola, Giovanni, Karalis, Katia, Economides, Aris, Fazio, Sergio, Liedtke, Wolfgang, Danesh, John, Kamal, Ayeesha, Frossard, Philippe, Coleman, Thomas, Shuldiner, Alan R., Saleheen, Danish

Volltext

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City von Ziyatdinov, Andrey, Torres, Jason, Alegre-Díaz, Jesús, Backman, Joshua, Mbatchou, Joelle, Turner, Michael, Gaynor, Sheila M., Joseph, Tyler, Zou, Yuxin, Liu, Daren, Wade, Rachel, Staples, Jeffrey, Panea, Razvan, Popov, Alex, Bai, Xiaodong, Balasubramanian, Suganthi, Habegger, Lukas, Lanche, Rouel, Lopez, Alex, Maxwell, Evan, Jones, Marcus, García-Ortiz, Humberto, Ramirez-Reyes, Raul, Santacruz-Benítez, Rogelio, Nag, Abhishek, Smith, Katherine R., Damask, Amy, Lin, Nan, Paulding, Charles, Reppell, Mark, Zöllner, Sebastian, Jorgenson, Eric, Salerno, William, Petrovski, Slavé, Overton, John, Reid, Jeffrey, Thornton, Timothy A., Abecasis, Gonçalo, Berumen, Jaime, Orozco-Orozco, Lorena, Collins, Rory, Baras, Aris, Hill, Michael R., Emberson, Jonathan R., Marchini, Jonathan, Kuri-Morales, Pablo, Tapia-Conyer, Roberto

Volltext

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies von 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

Volltext

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions von Xiao, Brenda, Velez Edwards, Digna R, Lucas, Anastasia, Drivas, Theodore, Gray, Kathryn, Keating, Brendan, Weng, Chunhua, Jarvik, Gail P, Hakonarson, Hakon, Kottyan, Leah, Elhadad, Noemie, Wei, Wei-Qi, Luo, Yuan, Kim, Dokyoon, Ritchie, Marylyn, Verma, Shefali Setia

Volltext

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

Volltext

Proprotein convertase subtilisin/kexin type 1 (PCSK1) variants and uses thereof von Lotta, Luca Andrea, Ferreira, Manuel Allen Revez

Volltext bestellen

PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 1 (PCSK1) VARIANTS AND USES THEREOF von FERREIRA, Manuel Allen Revez, LOTTA, Luca Andrea

Volltext bestellen

Proprotein convertase subtilisin/kexin type 1 (PCSK1) variants and uses thereof von FERREIRA, Manuel Allen Revez, LOTTA, Luca Andrea

Volltext bestellen

TREATMENT OF ENDOMETRIOSIS WITH R-SPONDIN 3 (RSPO3) INHIBITORS von WILLIAMS, Courtney, FERREIRA, Manuel Allen Revez, SUCIU, Maria Cristina

Volltext bestellen

Treatment Of Endometriosis With R-Spondin 3 (RSPO3) Inhibitors von Williams, Courtney, Suciu, Maria Cristina, Ferreira, Manuel Allen Revez

Volltext bestellen

Macrophage Stimulating 1 Receptor (MST1R) Variants And Uses Thereof von Horowitz, Julie, Baras, Aris, Ferreira, Manuel Allen Revez

Volltext bestellen

Macrophage stimulating 1 receptor (MST1R) variants and uses thereof von Horowitz, Julie, Baras, Aris, Ferreira, Manuel Allen Revez

Volltext bestellen

Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) Variants And Uses Thereof von Lotta, Luca Andrea, Ferreira, Manuel Allen Revez

Volltext bestellen