Long-term durability between parent and child patient-reported outcomes in eosinophilic esophagitis

Autor: Martin, Lisa J., Zhang, Xue, Chehade, Mirna, Davis, Carla M., Dellon, Evan S., Falk, Gary W., Gupta, Sandeep K., Hirano, Ikuo, Hiremath, Girish S., Katzka, David A., Khoury, Paneez, Leung, John, Menard-Katcher, Paul, Gonsalves, Nirmala, Pesek, Robert D., Spergel, Jonathan M., Wechsler, Joshua B., Kliewer, Kara, Arva, Nicoleta C., Collins, Margaret H., Pletneva, Maria, Yang, Guang-Yu, Furuta, Glenn T., Rothenberg, Marc E., Aceves, Seema S.

Publikováno v: In The Journal of Allergy and Clinical Immunology November 2024 154(5):1232-1240

Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma

Autor: Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A.A.K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio, Magnabosco, Wesley J., BioBank Japan Project Consortium, Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, FinnGen, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., de Souza, Aline G., Sares, Claudia T.G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, Chanock, Stephen J., Guo, Xinyu, Winter, Timothy D., Jahagirdar, Om, Ha, Eunji, Susztak, Katalin

Publikováno v: In The American Journal of Human Genetics 5 September 2024 111(9):1864-1876

Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants

Autor: Lee, Teresa M., Miller, Erin, Sridhar, Arthi, Fan, Xiao, Dexheimer, Phillip J., Bansal, Neha, Godown, Justin, Hsu, Daphne T., Kantor, Paul, Kirmani, Sonya, Lal, Ashwin K., Rossano, Joseph W., Towbin, Jeffrey A., Webber, Steven A., Shi, Ling, Hamza, Taye H., Aronow, Bruce J., Bhatnaghar, Surbhi, Martin, Lisa J., Schubert, Jeffrey, Ware, Stephanie M., Chung, Wendy K., Wilkinson, James D., Lipshultz, Steven E.

Publikováno v: In Progress in Pediatric Cardiology September 2024 74

Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease

Autor: DeVore, Stanley B., Schuetz, Matthew, Alvey, Lauren, Lujan, Henry, Ochayon, David E., Williams, Lindsey, Chang, Wan Chi, Filuta, Alyssa, Ruff, Brandy, Kothari, Arjun, Hahn, Jennifer M., Brandt, Eric, Satish, Latha, Roskin, Krishna, Herr, Andrew B., Biagini, Jocelyn M., Martin, Lisa J., Cagdas, Deniz, Keles, Sevgi, Milner, Joshua D., Supp, Dorothy M., Khurana Hershey, Gurjit K.

Publikováno v: In Cell Reports 27 August 2024 43(8)

Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network

Autor: Lewis, Anna C.F., Chisholm, Rex L., Connolly, John J., Esplin, Edward D., Glessner, Joe, Gordon, Adam, Green, Robert C., Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Jarvik, Gail P., Karlson, Elizabeth, Kenny, Eimear E., Kottyan, Leah, Lennon, Niall, Linder, Jodell E., Luo, Yuan, Martin, Lisa J., Perez, Emma, Puckelwartz, Megan J., Rasmussen-Torvik, Laura J., Sabatello, Maya, Sharp, Richard R., Smoller, Jordan W., Sterling, Rene, Terek, Shannon, Wei, Wei-Qi, Fullerton, Stephanie M.

Publikováno v: In The American Journal of Human Genetics 6 June 2024 111(6):999-1005