A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
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Published:2022-07
Issue:7
Volume:24
Page:1567-1582
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Shankar Suma P.ORCID, Grimsrud Kristin, Lanoue Louise, Egense Alena, Willis Brandon, Hörberg Johanna, AlAbdi Lama, Mayer Klaus, Ütkür Koray, Monaghan Kristin G., Krier Joel, Stoler Joan, Alnemer Maha, Shankar Prabhu R., Schaffrath Raffael, Alkuraya Fowzan S., Brinkmann Ulrich, Eriksson Leif A., Lloyd Kent, Rauen Katherine A., Acosta Maria T., Adam Margaret, Adams David R., Alvey Justin, Amendola Laura, Andrews Ashley, Ashley Euan A., Azamian Mahshid S., Bacino Carlos A., Bademci Guney, Balasubramanyam Ashok, Baldridge Dustin, Bale Jim, Bamshad Michael, Barbouth Deborah, Bayrak-Toydemir Pinar, Beck Anita, Beggs Alan H., Behrens Edward, Bejerano Gill, Bennet Jimmy, Berg-Rood Beverly, Bernstein Jonathan A., Berry Gerard T., Bican Anna, Bivona Stephanie, Blue Elizabeth, Bohnsack John, Bonner Devon, Botto Lorenzo, Boyd Brenna, Briere Lauren C., Brokamp Elly, Brown Gabrielle, Burke Elizabeth A., Burrage Lindsay C., Butte Manish J., Byers Peter, Byrd William E., Carey John, Carrasquillo Olveen, Cassini Thomas, Peter Chang Ta Chen, Chanprasert Sirisak, Chao Hsiao-Tuan, Clark Gary D., Coakley Terra R., Cobban Laurel A., Cogan Joy D., Coggins Matthew, Cole F. Sessions, Colley Heather A., Cooper Cynthia M., Cope Heidi, Craigen William J., Crouse Andrew B., Cunningham Michael, D'Souza Precilla, Dai Hongzheng, Dasari Surendra, Davis Joie, Dayal Jyoti G., Deardorff Matthew, Dell'Angelica Esteban C., Dipple Katrina, Doherty Daniel, Dorrani Naghmeh, Doss Argenia L., Douine Emilie D., Duncan Laura, Earl Dawn, Eckstein David J., Emrick Lisa T., Eng Christine M., Esteves Cecilia, Falk Marni, Fernandez Liliana, Fieg Elizabeth L., Fisher Paul G., Fogel Brent L., Forghani Irman, Gahl William A., Glass Ian, Gochuico Bernadette, Godfrey Rena A., Golden-Grant Katie, Goldrich Madison P., Grajewski Alana, Gutierrez Irma, Hadley Don, Hahn Sihoun, Hamid Rizwan, Hassey Kelly, Hayes Nichole, High Frances, Hing Anne, Hisama Fuki M., Holm Ingrid A., Hom Jason, Horike-Pyne Martha, Huang Alden, Huang Yong, Introne Wendy, Isasi Rosario, Izumi Kosuke, Jamal Fariha, Jarvik Gail P., Jarvik Jeffrey, Jayadev Suman, Jean-Marie Orpa, Jobanputra Vaidehi, Karaviti Lefkothea, Kennedy Jennifer, Ketkar Shamika, Kiley Dana, Kilich Gonench, Kobren Shilpa N., Kohane Isaac S., Kohler Jennefer N., Krakow Deborah, Krasnewich Donna M., Kravets Elijah, Korrick Susan, Koziura Mary, Lalani Seema R., Lam Byron, Lam Christina, LaMoure Grace L., Lanpher Brendan C., Lanza Ian R., LeBlanc Kimberly, Lee Brendan H., Levitt Roy, Lewis Richard A., Liu Pengfei, Liu Xue Zhong, Longo Nicola, Loo Sandra K., Loscalzo Joseph, Maas Richard L., Macnamara Ellen F., MacRae Calum A., Maduro Valerie V., Mak Bryan C., Malicdan May Christine V., Mamounas Laura A., Manolio Teri A., Mao Rong, Maravilla Kenneth, Marom Ronit, Marth Gabor, Martin Beth A., Martin Martin G., Martínez-Agosto Julian A., Marwaha Shruti, McCauley Jacob, McConkie-Rosell Allyn, McCray Alexa T., McGee Elisabeth, Mefford Heather, Merritt J. Lawrence, Might Matthew, Mirzaa Ghayda, Morava Eva, Moretti Paolo M., Nakano-Okuno Mariko, Nelson Stan F., Newman John H., Nicholas Sarah K., Nickerson Deborah, Nieves-Rodriguez Shirley, Novacic Donna, Oglesbee Devin, Orengo James P., Pace Laura, Pak Stephen, Pallais J. Carl, Palmer Christina G.S., Papp Jeanette C., Parker Neil H., Phillips John A., Posey Jennifer E., Potocki Lorraine, Pusey Barbara N., Quinlan Aaron, Raskind Wendy, Raja Archana N., Rao Deepak A., Raper Anna, Renteria Genecee, Reuter Chloe M., Rives Lynette, Robertson Amy K., Rodan Lance H., Rosenfeld Jill A., Rosenwasser Natalie, Rossignol Francis, Ruzhnikov Maura, Sacco Ralph, Sampson Jacinda B., Saporta Mario, Scott C. Ron, Schaechter Judy, Schedl Timothy, Schoch Kelly, Scott Daryl A., Shashi Vandana, Shin Jimann, Silverman Edwin K., Sinsheimer Janet S., Sisco Kathy, Smith Edward C., Smith Kevin S., Solem Emily, Solnica-Krezel Lilianna, Solomon Ben, Spillmann Rebecca C., Stoler Joan M., Sullivan Jennifer A., Sullivan Kathleen, Sun Angela, Sutton Shirley, Sweetser David A., Sybert Virginia, Tabor Holly K., Tan Amelia L.M., Queenie K.-G., Tekin Tan, Mustafa, Telischi Fred, Thorson Willa, Tifft Cynthia J., Toro Camilo, Tran Alyssa A., Tucker Brianna M., Urv Tiina K., Vanderver Adeline, Velinder Matt, Viskochil Dave, Vogel Tiphanie P., Wahl Colleen E., Wallace Stephanie, Walley Nicole M., Walker Melissa, Wambach Jennifer, Wan Jijun, Wang Lee-kai, Wangler Michael F., Ward Patricia A., Wegner Daniel, Weisz-Hubshman Monika, Wener Mark, Wenger Tara, Perry Katherine Wesseling, Westerfield Monte, Wheeler Matthew T., Whitlock Jordan, Wolfe Lynne A., Worley Kim, Xiao Changrui, Yamamoto Shinya, Yang John, Zastrow Diane B., Zhang Zhe, Zhao Chunli, Zuchner Stephan, Bellen Hugo, Mahoney Rachel
Subject
Genetics (clinical)
Cited by
8 articles.
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