MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Autor: Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

Publikováno v: In The American Journal of Human Genetics 7 November 2024 111(11):2392-2410

Longitudinal Associations between Neurodevelopment and Psychosocial Health Status in Patients with Repaired D-Transposition of the Great Arteries

Autor: Robson, Victoria K., Stopp, Christian, Wypij, David, Dunbar-Masterson, Carolyn, Bellinger, David C., DeMaso, David R., Rappaport, Leonard A., Newburger, Jane W. ^*

Publikováno v: In The Journal of Pediatrics January 2019 204:38-45

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

Autor: Khwaja, Omar S., Ho, Eugenia, Barnes, Katherine V., O'Leary, Heather M., Pereira, Luis M., Finkelstein, Yaron, Nelson, Charles A., Vogel-Farley, Vanessa, DeGregorio, Geneva, Holm, Ingrid A., Khatwa, Umakanth, Kapur, Kush, Alexander, Mark E., Finnegan, Deirdre M., Cantwell, Nicole G., Walco, Alexandra C., Rappaport, Leonard, Gregas, Matt, Fichorova, Raina N., Shannon, Michael W., Sur, Mriganka, Kaufmann, Walter E.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2014 Mar . 111(12), 4596-4601.

Externí odkaz: https://www.jstor.org/stable/23771112

Randomized trial of hematocrit 25% versus 35% during hypothermic cardiopulmonary bypass in infant heart surgery

Autor: Newburger, Jane W., Jonas, Richard A., Soul, Janet, Kussman, Barry D., Bellinger, David C., Laussen, Peter C., Robertson, Richard, Mayer, John E., Jr, del Nido, Pedro J., Bacha, Emile A., Forbess, Joseph M., Pigula, Frank, Roth, Stephen J., Visconti, Karen J., du Plessis, Adre J., Farrell, David M., McGrath, Ellen, Rappaport, Leonard A., Wypij, David

Publikováno v: In The Journal of Thoracic and Cardiovascular Surgery 2008 135(2):347-354

Contributors

Autor: Albee, May V., Angkustsiri, Kathleen, Anoshiravani, Arash, Ansel, David Alan, Anthony, Tanni L., Armstrong-Brine, Melissa, Arruda, Jenna, Rosenbaum Asarnow, Joan, Augustyn, Marilyn, Baker II, Peter, Bandini, Linda G., Barbaresi, William J., Barnett, W. Steven, Bassingthwaite, Brenda, Bassitt, Brittany S., Batt, Courtney E., Baum, Rebecca A., Baumer, Fiona M., Becker, Ronald E., Beckwith, Anna Malia, Beers, Nathaniel S., Bellinger, David C., Bennett, Amanda E., Blankenship, Kelly, Blum, Nathan J., Boog, Kristen, Boynton-Jarrett, Renée, Breitborde, Nicholas J.K., Brennan-Krohn, Zoe, Brochier, Annelise, Brooks, Shalonda, Brown, Mariah, Brown, Michelle R., Brunt, Sophie, Burkhart, Kimberly, Bush, Nicole R., Butter, Eric M., Buyers, Eliza, Canfield, Caitlin F., Carpenter, Laura Arnstein, Cavanaugh, Kaitlyn, Cawkwell, Philip B., Chen, Diane, Chesley, Gayle, Clark, Marie A., Coan, Elizabeth, Cohen, Shereen J., Coleman, Cara, Corbett, Sean T., Cormier II, DePorres, Coyne, Claire A., Crouse, Catherine, Curtin, Carol, Davis, Beth Ellen, Davis, Katie, Davis, Shanlee, Demaria, Thomas, Dempsey, Allison G., Devine, Katie A., DeWitt, Mary Beth, Diab, Liliane, Dietz, Irene Cihon, Dubow, Elizabeth, Dubner, Sarah E., Duby, John C., Duis, Jessica, Elansary, Mei, Elias, Ellen Roy, Enriquez, Janice, Enzenauer, Robert W., Erisman, Shannon, Eschbach, Krista, Klein, Jordan Ezell, Fehr, Karla K., Feldman, Heidi M., Fishbein, Lauren B., Fogler, Jason M., Frank, Deborah A., Friedman, Sandra L., Friedman, Sarah L., Fristad, Mary A., Gaab, Nadine, Gilgoff, Rachel Lee, Gonzalez, R. Emily, Good, Julie, Gray, Susan Hayden, Greathouse, A. Dawn, Hagerman, Randi, Hall, Eleanore M., Hall, Howard, Halpern-Felsher, Bonnie, Hamilton, Sarah A., Hansen, Robin L., Hassink, Sandra G., Hauptman, Marissa, Hawes, Katheleen, Hazen, Rebecca A., Hergenroeder, Albert, Herrera, Jenniffer, Hickey, Francis, High, Pamela, Hocking, Matthew C., Hostutler, Cody A., Howell, Susan, Huffman, Lynne C., Hughes-Scalise, Abby, Hyman, Susan L., Ingram, Kida, Iyengar, Sandhyaa, Jackel, Carissa R., Jalalizadeh, Bayan, Jimenez, Manuel E., Julian, Megan M., Kahn, Colleen, Keder, Robert D., Keeshin, Brooks, Kelly, M. Kathleen, Kelminson, Karen, Khetani, Mary A., Kiley, Bridget, Kim, Judy Lu, Kinser, Patricia A., Kirkwood, Michael W., Knight, John R., Knotowicz, Holly, Kochhar, Aaina, Koshy, Anson J., Kral, Mary C., Krebs, Nancy F., Krueger, Casey E., Kruger, Jeremy, Kupzyk, Sara, Kwok, Gary, Landrigan, Philip J., Larson, Austin, Lazaro, Adrienne, Ledesma, Michele, Leff, Stephen S., Leikauf, John E., O'Connor Leppert, Mary L., Leraas, Bethany, Loe, Irene M., Lumeng, Julie C., Macias, Michelle M., Magnusson, Dawn M., Malik, Fatima, Mancini, Kathryn, Mann, Kilby, Marquardt, Melissa, Marwaha, Raman, Mazurek, Micah, McDaniel, Susan H., McDonald, Eric, McGuinn, Laura Joan, Meeks, Naomi J.L., Mehlenbeck, Robyn, Mendelsohn, Alan L., Messick, Cheryl, Mink, Jonathan W., Mintz, Laura J., Mizner, Susan, Monteiro, Sonia A., Mood, Deborah, Moore, Jessica, Moyer, Sara W., Mueller, Claudia M., Mulé, Christina, Munzer, Tiffany, Murphy, Nancy, Murray, Caitlin B., Murray, Marsheena, Myers, Brittany R., Nadler, Cy, Needlman, Robert, Okamoto, Jeffrey, Oleszek, Joyce, O'Rourke, Sara, Owens, Judith A., Palat, Padmini, Palermo, Tonya M., Parris, Craig J., Patel, Jessica, Pereira-Smith, Silvia, Perrin, Hannah, Pesch, Megan Honor, Peterson, Jaime W., Phelps, Randall, Pickler, Laura, Powell, Aaron, Prock, Lisa, Puente, Michael A., Pugatch, Marianne, Rabot, Jamie T., Ramirez, Lisa, Rappaport, Leonard A., Rathbun, Jennifer M., Ratliff-Schaub, Karen, Reggiani, Shelly, Reilly, Marie, Reitmeyer, Dillon, Restrepo, Bibiana, Vazquez, Luis A. Rivas, Robins, Paul M., Roby, Erin, Roizen, Nancy J., Ros-DeMarize, Rosmary, Rouch, Erica Fornaris, Rusnak, Suzanne Cushwa, Sajwani, Afiya, Salisbury, Amy L., Sanders, Benjamin W., Sandesara, Ishani, Santucci, Kourtney, Scholnick, Ellin K., Schonfeld, David J., Schonwald, Alison, Schwartz, Justin Charles, Schwarz, Brittany L., Scott-Mordhorst, Tina, Seeley, Kylie M.L., Shabason, Emily K., Shaffer, Laura A., Shahidullah, Jeffrey D., Shelkowitz, Emily, Shepard, Jaclyn A., Simon, Kevin M., Slaymaker, Kristen, Smith, Peter J., Sourkes, Barbara, Speer, Leslie, Spelbrink, Emily M., Spinks-Franklin, Adiaha, Spitalnik, Deborah M., Stager, Margaret, Stancin, Terry, Stanger, Meg, Stearns, Walter H., Stillwell, Terri, Takamatsu, Stephanie K., Tartaglia, Nicole, Thompson, Talia, Tlustos, Sarah J., Tridas, Eric, Trojanowski, Paige J., Troy, Elizabeth, Tudor, Megan E., Valenzuela-Araujo, Doris, Scoyoc, Amanda Van, Vanderbilt, Douglas L., Simpson, Jessica VanOrmer, Voigt, Robert G., Waanders, Christine, Wallis, Kate E., Weissman, Laura, Weitzman, Carol, Wigby, Kristen, Winder-Patel, Breanna M., Wissow, Larry, Wright, Kara K., Yang, Michele, Yarnell Bonino, Angela, Yarus, Mary, Yeh, Ann Ming, Yilanli, Musa, Zinner, Samuel H., Zorrilla, Marcia, Zuckerman, Barry, Zuckerman, Katharine E., Zullo, Lucas

Publikováno v: In Developmental-Behavioral Pediatrics Edition: Fifth Edition. 2023:v-xv