Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

by Roychowdhury, Tanmoy, Lu, Haocheng, Hornsby, Whitney E., Crone, Bradley, Wang, Gao T., Guo, Dong-chuan, Sendamarai, Anoop K., Devineni, Poornima, Lin, Maoxuan, Zhou, Wei, Graham, Sarah E., Wolford, Brooke N., Surakka, Ida, Wang, Zhenguo, Chang, Lin, Zhang, Jifeng, Mathis, Michael, Brummett, Chad M., Melendez, Tori L., Shea, Michael J., Kim, Karen Meekyong, Deeb, G. Michael, Patel, Himanshu J., Eliason, Jonathan, Eagle, Kim A., Yang, Bo, Ganesh, Santhi K., Brumpton, Ben, Åsvold, Bjørn Olav, Skogholt, Anne Heidi, Hveem, Kristian, Pyarajan, Saiju, Klarin, Derek, Tsao, Philip S., Damrauer, Scott M., Leal, Suzanne M., Milewicz, Dianna M., Chen, Y. Eugene, Garcia-Barrio, Minerva T., Willer, Cristen J.
Published in American journal of human genetics

Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

by Guthridge, Joel M., Lu, Rufei, Sun, Harry, Sun, Celi, Wiley, Graham B., Dominguez, Nicolas, Macwana, Susan R., Lessard, Christopher J., Kim-Howard, Xana, Cobb, Beth L., Kaufman, Kenneth M., Kelly, Jennifer A., Langefeld, Carl D., Adler, Adam J., Harley, Isaac T.W., Merrill, Joan T., Gilkeson, Gary S., Kamen, Diane L., Niewold, Timothy B., Brown, Elizabeth E., Edberg, Jeffery C., Petri, Michelle A., Ramsey-Goldman, Rosalind, Reveille, John D., Vilá, Luis M., Kimberly, Robert P., Freedman, Barry I., Stevens, Anne M., Boackle, Susan A., Criswell, Lindsey A., Vyse, Tim J., Behrens, Timothy W., Jacob, Chaim O., Alarcón-Riquelme, Marta E., Sivils, Kathy L., Choi, Jiyoung, Joo, Young Bin, Bang, So-Young, Lee, Hye-Soon, Bae, Sang-Cheol, Shen, Nan, Qian, Xiaoxia, Tsao, Betty P., Scofield, R. Hal, Harley, John B., Webb, Carol F., Wakeland, Edward K., James, Judith A., Nath, Swapan K., Graham, Robert R., Gaffney, Patrick M.
Published in American journal of human genetics

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

by Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Published in American journal of human genetics

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

by Judd, Jonathan, Kanoni, Stavroula, Clarke, Shoa L., Klarin, Derek, Hwang, Mi Yeong, Akiyama, Masato, Rasheed, Humaira, Havulinna, Aki S., Feng, QiPing, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Giulianini, Franco, Miller, Jason E., Zhao, Wei, Turman, Constance, Yin, Xianyong, Pitsillides, Achilleas, Lee, Wen-Jane, Zeng, Lingyao, Poveda, Alaitz, Kurbasic, Azra, Galesloot, Tessel E., Ruotsalainen, Sanni E., Hemerich, Daiane, Demirkan, Ayşe, Arbeeva, Liubov, Pauper, Marc, Long, Jirong, Bollepalli, Sailalitha, Warner, Sophie C., Smith, Jennifer A., Lin, Maoxuan, Vaccargiu, Simona, Bentley, Amy R., Nethander, Maria, Freitag-Wolf, Sandra, Nikus, Kjell, Martin, Lisa Warsinger, Nabika, Toru, Niinikoski, Harri, Braund, Peter S., de Kleijn, Dominique, Hansen, Torben, Pennell, Craig E., Mori, Trevor A., Franke, Andre, Ohlsson, Claes, Stark, Klaus J., Evans, Michele K., Zonderman, Alan B., Snieder, Harold, Schmidt, Reinhold, Dedoussis, George, Caulfield, Mark J., Guo, Xiuqing, Kaprio, Jaakko, Wu, Jer-Yuarn, Arnett, Donna K., Chandak, Giriraj R., Mercader, Josep M., Orozco, Lorena, Lehtimäki, Terho, Liu, Jianjun, Reilly, Dermot F., McCarthy, Mark I., Cruz, Miguel, Rotimi, Charles N., Widén, Elisabeth, Grant, Struan F.A., de Graaf, Jacqueline, Erdmann, Jeanette, Jukema, J. Wouter, Francesco, Cucca, Willems van Dijk, Ko, Sabanayagam, Charumathi, Pedersen, Nancy L., de Geus, Eco J.C., Langenberg, Claudia, Zeggini, Eleftheria, Laakso, Markku, Abecasis, Goncalo, Hazelhurst, Scott, Ramsay, Michèle, Walters, Robin G., Holmes, Michael V., Black, Corri, van Heel, David A., Jarvik, Gail P., Ritchie, Marylyn D., Jousilahti, Pekka, Kubo, Michiaki, Thorsteinsdottir, Unnur, Mohlke, Karen L., Hirschhorn, Joel N., Kathiresan, Sekar, Natarajan, Pradeep, Sun, Yan V., Peloso, Gina, Brown, Christopher D.
Published in American journal of human genetics

Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study

by Lessard, Christopher J., Adrianto, Indra, Kelly, Jennifer A., Kaufman, Kenneth M., Grundahl, Kiely M., Adler, Adam, Williams, Adrienne H., Gallant, Caroline J., Anaya, Juan-Manuel, Bae, Sang-Cheol, Boackle, Susan A., Brown, Elizabeth E., Chang, Deh-Ming, Criswell, Lindsey A., Edberg, Jeffrey C., Freedman, Barry I., Gregersen, Peter K., Gilkeson, Gary S., Jacob, Chaim O., James, Judith A., Kamen, Diane L., Kimberly, Robert P., Martin, Javier, Merrill, Joan T., Niewold, Timothy B., Park, So-Yeon, Petri, Michelle A., Pons-Estel, Bernardo A., Ramsey-Goldman, Rosalind, Reveille, John D., Song, Yeong Wook, Stevens, Anne M., Tsao, Betty P., Vila, Luis M., Vyse, Timothy J., Yu, Chack-Yung, Guthridge, Joel M., Bruner, Gail R., Langefeld, Carl D., Montgomery, Courtney, Harley, John B., Scofield, R. Hal, Gaffney, Patrick M., Moser, Kathy L.
Published in American journal of human genetics

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study

by Lessard, Christopher J., Adrianto, Indra, Ice, John A., Wiley, Graham B., Kelly, Jennifer A., Glenn, Stuart B., Adler, Adam J., Li, He, Rasmussen, Astrid, Williams, Adrienne H., Ziegler, Julie, Comeau, Mary E., Marion, Miranda, Wakeland, Benjamin E., Liang, Chaoying, Ramos, Paula S., Grundahl, Kiely M., Gallant, Caroline J., Alarcón, Graciela S., Anaya, Juan-Manuel, Bae, Sang-Cheol, Boackle, Susan A., Brown, Elizabeth E., Chang, Deh-Ming, Cho, Soo-Kyung, Criswell, Lindsey A., Edberg, Jeffrey C., Freedman, Barry I., Gilkeson, Gary S., Jacob, Chaim O., James, Judith A., Kamen, Diane L., Kimberly, Robert P., Kim, Jae-Hoon, Martin, Javier, Merrill, Joan T., Niewold, Timothy B., Park, So-Yeon, Petri, Michelle A., Pons-Estel, Bernardo A., Ramsey-Goldman, Rosalind, Reveille, John D., Scofield, R. Hal, Song, Yeong Wook, Stevens, Anne M., Tsao, Betty P., Vila, Luis M., Vyse, Timothy J., Yu, Chack-Yung, Guthridge, Joel M., Kaufman, Kenneth M., Harley, John B., Wakeland, Edward K., Langefeld, Carl D., Gaffney, Patrick M., Montgomery, Courtney G., Moser, Kathy L.
Published in American journal of human genetics

Lupus risk-variant increases pSTAT1 binding and decreases ETS1 expression

by Lu, Xiaoming, Zoller, Erin E., Weirauch, Matthew T., Wu, Zhiguo, Namjou, Bahram, Williams, Adrienne H., Ziegler, Julie T., Comeau, Mary E., Marion, Miranda C., Glenn, Stuart B., Adler, Adam, Shen, Nan, Nath, Swapan K., Stevens, Anne M., Freedman, Barry I., Tsao, Betty P., Jacob, Chaim O., Kamen, Diane L., Brown, Elizabeth E., Gilkeson, Gary S., Alarcón, Graciela S., Reveille, John D., Anaya, Juan-Manuel, James, Judith A., Sivils, Kathy L., Criswell, Lindsey A., Vilá, Luis M., Alarcón-Riquelme, Marta E., Petri, Michelle, Scofield, R Hal, Kimberly, Robert P., Ramsey-Goldman, Rosalind, Joo, Young Bin, Choi, Jeongim, Bae, Sang-Cheol, Boackle, Susan A., Graham, Deborah Cunninghame, Vyse, Timothy J., Guthridge, Joel M., Gaffney, Patrick M., Langefeld, Carl D., Kelly, Jennifer A., Greis, Kenneth D., Kaufman, Kenneth M., Harley, John B., Kottyan, Leah C.
Published in American journal of human genetics

Identification of IRFB, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study

by LESSARD, Christopher J, ADRIANTO, Indra, ZIEGLER, Julie, COMEAU, Mary E, MARION, Miranda, WAKELAND, Benjamin E, CHAOYING LIANG, RAMOS, Paula S, GRUNDAHL, Kiely M, GALLANT, Caroline J, ALARCON-RIQUELME, Marta E, ALARCON, Graciela S, ICE, John A, ANAYA, Juan-Manuel, BAE, Sang-Cheol, BOACKLE, Susan A, BROWN, Elizabeth E, CHANG, Deh-Ming, CHO, Soo-Kyung, CRISWE, Lindsey A, EDBERG, Jeffrey C, FREEDMAN, Barry I, GILKESON, Gary S, WILEY, Graham B, JACOB, Chaim O, JAMES, Judith A, KAMEN, Diane L, KIMBERLY, Robert P, KIM, Jae-Hoon, MARTIN, Javier, MERRILL, Joan T, NIEWOLD, Timothy B, PARK, So-Yeon, PETRI, Michelle A, KELLY, Jennifer A, PONS-ESTEL, Bernardo A, RAMSEY-GOLDMAN, Rosalind, REVEILLE, John D, HAL SCOFIELD, R, YEONG WOOK SONG, STEVENS, Anne M, TSAO, Betty P, VILA, Luis M, VYSE, Timothy J, YU, Chack-Yung, GLENN, Stuart B, GUTHRIDGE, Joel M, KAUFMAN, Kenneth M, HARLEY, John B, WAKELAND, Edward K, LANGEFELD, Carl D, GAFFNEY, Patrick M, MONTGOMERY, Courtney G, MOSER, Kathy L, ADLER, Adam J, HE LI, RASMUSSEN, Astrid, WILLIAMS, Adrienne H
Published in American journal of human genetics

Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11 p13 between PDHX and CD44 in a Multiethnic Study

by LESSARD, Christopher J, ADRIANTO, Indra, BAE, Sang-Cheol, BOACKLE, Susan A, BROWN, Elizabeth E, CHANG, Deh-Ming, CRISWELL, Lindsey A, EDBERG, Jeffrey C, FREEDMAN, Barry I, GREGERSEN, Peter K, GILKESON, Gary S, JACOB, Chaim O, KELLY, Jennifer A, JAMES, Judith A, KAMEN, Diane L, KIMBERLY, Robert P, MARTIN, Javier, MERRILL, Joan T, NIEWOLD, Timothy B, PARK, So-Yeon, PETRI, Michelle A, PONS-ESTEL, Bernardo A, RAMSEY-GOLDMAN, Rosalind, KAUFMAN, Kenneth M, REVEILLE, John D, YEONG WOOK SONG, STEVENS, Anne M, TSAO, Betty P, VILA, Luis M, VYSE, Timothy J, YU, Chack-Yung, GUTHRIDGE, Joel M, BRUNER, Gail R, LANGEFELD, Carl D, GRUNDAHL, Kiely M, MONTGOMERY, Courtney, HARLEY, John B, SCOFIELD, R. Hal, GAFFNEY, Patrick M, MOSER, Kathy L, ADLER, Adam, WILLIAMS, Adrienne H, GALLANT, Caroline J, ALARCON-RIQUELME, Marta E, ANAYA, Juan-Manuel
Published in American journal of human genetics