by Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.
Published in Genetics in medicine (01.11.2014)

by Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.01.2019)

by Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Published in American journal of human genetics (13.07.2012)

by Shafer, Grant J., Abdenur, Jose E., Dhar, Vijay, Mikhael, Michel
Published in American journal of perinatology reports (01.01.2023)

by Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.
Published in American journal of medical genetics. Part A (01.01.2021)

by Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.
Published in Molecular genetics and metabolism reports (01.03.2024)

by Merritt, J. Lawrence, Vedal, Sverre, Abdenur, Jose E., Au, Sylvia M., Barshop, Bruce A., Feuchtbaum, Lisa, Harding, Cary O., Hermerath, Cheryl, Lorey, Fred, Sesser, David E., Thompson, John D., Yu, Arthur
Published in Molecular genetics and metabolism (01.04.2014)

by Wang, Raymond Y., Monuki, Edwin S., Powers, James, Schwartz, Phillip H., Watkins, Paul A., Shi, Yang, Moser, Ann, Shrier, David A., Waterham, Hans R., Nugent, Diane J., Abdenur, Jose E.
Published in Journal of inherited metabolic disease (01.09.2014)

by Puckett, Rebecca L, Moore, Steven A, Winder, Thomas L, Willer, Tobias, Romansky, Stephen G, Covault, Kelly King, Campbell, Kevin P, Abdenur, Jose E
Published in Neuromuscular disorders : NMD (01.05.2009)

by Stiles, Ashlee R., Simon, Mariella T., Stover, Alexander, Eftekharian, Shaya, Khanlou, Negar, Wang, Hanlin L., Magaki, Shino, Lee, Hane, Partynski, Kate, Dorrani, Nagmeh, Chang, Richard, Martinez-Agosto, Julian A., Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2016)

by Enns, Gregory M., Kinsman, Stephen L., Perlman, Susan L., Spicer, Kenneth M., Abdenur, Jose E., Cohen, Bruce H., Amagata, Akiko, Barnes, Adam, Kheifets, Viktoria, Shrader, William D., Thoolen, Martin, Blankenberg, Francis, Miller, Guy
Published in Molecular genetics and metabolism (01.01.2012)

by Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)

by Huang, Yue, Chang, Richard, Abdenur, Jose E.
Published in Molecular genetics and metabolism reports (01.09.2022)

by Wang, Raymond Y., Chang, Richard C., Sowa, Mary E., Chang, Anthony C., Abdenur, Jose E.
Published in World journal of pediatrics : WJP (01.02.2014)

by Coughlin, Curtis R, Tseng, Laura A, Bok, Levinus A, Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M, Lunsing, Roelineke J, Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L K, Abdenur, Jose E, Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian C H, van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N, Lamb, Molly M, Wijburg, Frits A, Gospe, Jr, Sidney M, van Karnebeek, Clara
Published in Neurology (06.12.2022)

by Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2019)

by Mares Beltran, Carlos F, Tise, Christina G, Barrick, Rebekah, Niehaus, Annie D, Sponberg, Rebecca, Chang, Richard, Enns, Gregory M, Abdenur, Jose E
Published in Genes (01.07.2024)

by Tseng, Laura A., Abdenur, Jose E., Andrews, Ashley, Aziz, Verena G., Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Hartmann, Hans, Footitt, Emma J., Grønborg, Sabine, Janssen, Mirian C.H., Longo, Nicola, Lunsing, Roelineke J., MacKenzie, Alex E., Wijburg, Frits A., Gospe, Sidney M., Coughlin, Curtis R., van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.04.2022)

by Morris, Mindy, Fischer, Kristin, Leydiker, Karen, Elliott, Lisa, Newby, Joan, Abdenur, Jose E.
Published in Genetics in medicine (01.06.2014)

by Miyake, Noriko, Yano, Shoji, Sakai, Chika, Hatakeyama, Hideyuki, Matsushima, Yuichi, Shiina, Masaaki, Watanabe, Yoriko, Bartley, James, Abdenur, Jose E., Wang, Raymond Y., Chang, Richard, Tsurusaki, Yoshinori, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Kazuhiro, Goto, Yu-ichi, Matsumoto, Naomichi
Published in Human mutation (01.03.2013)