A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
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Published:2024-01
Issue:1
Volume:111
Page:96-118
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Paul Maimuna S., Michener Sydney L., Pan Hongling, Chan Hiuling, Pfliger Jessica M., Rosenfeld Jill A., Lerma Vanesa C., Tran Alyssa, Longley Megan A., Lewis Richard A., Weisz-Hubshman Monika, Bekheirnia Mir Reza, Bekheirnia Nasim, Massingham Lauren, Zech Michael, Wagner Matias, Engels Hartmut, Cremer Kirsten, Mangold Elisabeth, Peters Sophia, Trautmann Jessica, Perne Claudia, Mester Jessica L., Guillen Sacoto Maria J., Person Richard, McDonnell Pamela P., Cohen Stacey R., Lusk Laina, Cohen Ana S.A., Le Pichon Jean-Baptiste, Pastinen Tomi, Zhou Dihong, Engleman Kendra, Racine Caroline, Faivre Laurence, Moutton Sébastien, Denommé-Pichon Anne-Sophie, Koh Hyun Yong, Poduri Annapurna, Bolton Jeffrey, Knopp Cordula, Julia Suh Dong Sun, Maier Andrea, Toosi Mehran Beiraghi, Karimiani Ehsan Ghayoor, Maroofian Reza, Schaefer Gerald Bradley, Ramakumaran Vijayalakshmi, Vasudevan Pradeep, Banos-Pinero Benito, Pagnamenta Alistair T., Prasad Chitra, Osmond Matthew, Schuhmann Sarah, Vasileiou Georgia, Russ-Hall Sophie, Scheffer Ingrid E., Carvill Gemma L., Mefford Heather, Acosta Maria T., Adam Margaret, Adams David R., Alvarez Raquel L., Alvey Justin, Amendola Laura, Andrews Ashley, Ashley Euan A., 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, Bellen Hugo J., Bennett 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., Brown Gabrielle, Burke Elizabeth A., Burrage Lindsay C., Butte Manish J., Byers Peter, Byrd William E., Carey John, Carrasquillo Olveen, Cassini Thomas, Chang Ta Chen Peter, Chanprasert Sirisak, Chao Hsiao-Tuan, Chinn Ivan, Clark Gary D., Coakley Terra R., Cobban Laurel A., Cogan Joy D., Coggins Matthew, Cole F. Sessions, Colley Heather A., Cope Heidi, Corona Rosario, Craigen William J., Crouse Andrew B., Cunningham Michael, D’Souza Precilla, Dai Hongzheng, Dasari Surendra, Davis Joie, Dayal Jyoti G., Dell'Angelica Esteban C., Dipple Katrina, Doherty Daniel, Dorrani Naghmeh, Doss Argenia L., Douine Emilie D., Earl Dawn, Eckstein David J., Emrick Lisa T., Eng Christine M., Falk Marni, Fieg Elizabeth L., Fisher Paul G., Fogel Brent L., Forghani Irman, Gahl William A., Glass Ian, Gochuico Bernadette, Goddard Page C., Godfrey Rena A., Golden-Grant Katie, Grajewski Alana, Hadley Don, Hahn Sihoun, Halley Meghan C., Hamid Rizwan, Hassey Kelly, Hayes Nichole, High Frances, Hing Anne, Hisama Fuki M., Holm Ingrid A., Hom Jason, Horike-Pyne Martha, Huang Alden, Hutchison Sarah, Introne Wendy, Isasi Rosario, Izumi Kosuke, Jamal Fariha, Jarvik Gail P., Jarvik Jeffrey, Jayadev Suman, Jean-Marie Orpa, Jobanputra Vaidehi, Karaviti Lefkothea, Ketkar Shamika, Kiley Dana, Kilich Gonench, Kobren Shilpa N., Kohane Isaac S., Kohler Jennefer N., Korrick Susan, Kozuira Mary, Krakow Deborah, Krasnewich Donna M., Kravets Elijah, Lalani Seema R., Lam Byron, Lam Christina, 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., Maghiro Audrey Stephannie, Mahoney Rachel, 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, Mulvihill John, Nakano-Okuno Mariko, Nelson Stanley 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 III John A., Posey Jennifer E., Potocki Lorraine, Pusey Swerdzewski Barbara N., Quinlan Aaron, Rao Deepak A., Raper Anna, Raskind Wendy, 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, Schaechter Judy, Schedl Timothy, Schoch Kelly, Scott Daryl A., Scott C. Ron, Seto Elaine, Shashi Vandana, Shin Jimann, Silverman Edwin K., Sinsheimer Janet S., Sisco Kathy, Smith Edward C., Smith Kevin S., Solnica-Krezel Lilianna, Solomon Ben, Spillmann Rebecca C., Stoler Joan M., Sullivan Kathleen, Sullivan Jennifer A., Sun Angela, Sutton Shirley, Sweetser David A., Sybert Virginia, Tabor Holly K., Tan Queenie K.-G., Tan Amelia L.M., Tarakad Arjun, Tekin Mustafa, Telischi Fred, Thorson Willa, Tifft Cynthia J., Toro Camilo, Tran Alyssa A., Ungar Rachel A., Urv Tiina K., Vanderver Adeline, Velinder Matt, Viskochil Dave, Vogel Tiphanie P., Wahl Colleen E., Walker Melissa, Wallace Stephanie, Walley Nicole M., Wambach Jennifer, Wan Jijun, Wang Lee-kai, Wangler Michael F., Ward Patricia A., Wegner Daniel, Weisz Hubshman Monika, Wener Mark, Wenger Tara, Westerfield Monte, Wheeler Matthew T., Whitlock Jordan, Wolfe Lynne A., Worley Kim, Xiao Changrui, Yamamoto Shinya, Yang John, Zhang Zhe, Zuchner Stephan, Bacino Carlos A., Lee Brendan H., Chao Hsiao-TuanORCID
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