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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

by Shimada, Shino, Ng, Bobby G, White, Amy L, Nickander, Kim K, Turgeon, Coleman, Liedtke, Kristen L, Lam, Christina T, Font-Montgomery, Esperanza, Lourenco, Charles M, He, Miao, Peck, Dawn S, Umana, Luis A, Uhles, Crescenda L, Haynes, Devon, Wheeler, Patricia G, Bamshad, Michael J, Nickerson, Deborah A, Cushing, Tom, Gates, Ryan, Gomez-Ospina, Natalia, Byers, Heather M, Scalco, Fernanda B, Martinez, Noelia N, Sachdev, Rani, Smith, Lacey, Poduri, Annapurna, Malone, Stephen, Harris, Rebekah V, Scheffer, Ingrid E, Rosenzweig, Sergio D, Adams, David R, Gahl, William A, Malicdan, May Christine V, Raymond, Kimiyo M, Freeze, Hudson H, Wolfe, Lynne A, Bamshad, Michael J, Nickerson, Deborah A, Anderson, Peter, Bacus, Tamara J, Blue, Elizabeth E, Brower, Katherine, Buckingham, Kati J, Chong, Jessica X, Davis, Colleen P, Davis, Chayna J, Frazar, Christian D, Gomeztagle-Burgess, Katherine, Gordon, William W, Horike-Pyne, Martha, Hurless, Jameson R, Jarvik, Gail P, Johanson, Eric, Thomas Kolar, J, Marvin, Colby T, McGee, Sean, McGoldrick, Daniel J, Mekonnen, Betselote, Nielsen, Patrick M, Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A, Roote, Gwendolin T, Ryke, Erica L, Shively, Kathryn M, Smith, Joshua D, Tackett, Monica, Weiss, Jeffrey M, Wheeler, Marsha M, Yi, Qian, Zhang, Xiaohong
Published in Journal of medical genetics (05.07.2022)

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

by Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.
Published in American journal of human genetics (01.03.2018)

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Journal Article

Devon in action

Published in Express & echo (07.07.2007)
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Newspaper Article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

by Mao, Dongxue, Reuter, Chloe M., Farrow, Emily G., Rosenfeld, Jill A., Mackenzie, Katherine M., Küry, Sébastien, Genetti, Casie A., Alejandro, Mercedes, Agrawal, Pankaj B., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Beck, Anita, Bellen, Hugo J., Berg-Rood, Beverly, Bernier, Raphael, Bivona, Stephanie, Bohnsack, John, Briere, Lauren C., Burke, Elizabeth A., Butte, Manish J., Carrasquillo, Olveen, Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dhar, Shweta U., Emrick, Lisa T., Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Forghani, Irman, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Hahn, Sihoun, Hanchard, Neil A., Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Karaviti, Lefkothea, Kelley, Emily G., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez-Agosto, Julian A., McCormack, Colleen E., Merritt, J. Lawrence, Moretti, Paolo M., Mulvihill, John J., Murdock, David R., Nickerson, Deborah, Pallais, J. Carl, Posey, Jennifer E., Potocki, Lorraine, Raja, Archana N., Renteria, Genecee, Rosenfeld, Jill A., Samson, Susan L., Schedl, Timothy, Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Urv, Tiina K., Wahl, Colleen E., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Bernstein, Jonathan A., Chao, Hsiao-Tuan
Published in American journal of human genetics (02.04.2020)

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