De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
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Published:2023-08
Issue:8
Volume:110
Page:1377-1393
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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:
Morleo ManuelaORCID, Venditti Rossella, Theodorou Evangelos, Briere Lauren C., Rosello Marion, Tirozzi Alfonsina, Tammaro Roberta, Al-Badri Nour, High Frances A., Shi Jiahai, Putti Elena, Ferrante Luigi, Cetrangolo Viviana, Torella Annalaura, Walker Melissa A., Tenconi Romano, Iascone Maria, Mei Davide, Guerrini Renzo, van der Smagt Jasper, Kroes Hester Y., van Gassen Koen L.I., Bilal Muhammad, Umair Muhammad, Pingault Veronica, Attie-Bitach Tania, Amiel Jeannine, Ejaz Resham, Rodan Lance, Zollino Marcella, Agrawal Pankaj B., Del Bene Filippo, Nigro Vincenzo, Sweetser David A., Franco Brunella, 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, 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, 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 AudreyStephannie, 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, 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., 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, Nigro Vincenzo, Torella Annalaura, Morleo Manuela, Spampanato Carmine, Pinelli Michele, Banfi Sandro, Varavallo Alessandra, Selicorni Angelo, Mariani Milena, Massimello Marta, Daolio Cecilia, Capra Valeria, Accogli Andrea, Scala Marcello, Leuzzi Vincenzo, Nardecchia Francesca, Galosi Serena, Mastrangelo Mario, Milani Donatella, Vitiello Giuseppina, Piluso Giulio, Romano Corrado, Failla Pinella, Greco Donatella, Pantaleoni Chiara, Ciaccio Claudia, D’Arrigo Stefano, Brunetti Pierri Nicola, Parenti Giancarlo, Coppola Antonietta, Mattina Teresa, Zollino Marcella, Amenta Simona, Tummolo Albina, Santoro Claudia, Grandone Anna, De Brasi Daniele, Varone Antonio, Garavelli Livia, Marini Carla, Bigoni Stefania, Piscopo Carmelo, Trabacca Antonio, De Rinaldis Marta, Peron Angela
Subject
Genetics (clinical),Genetics
Cited by
1 articles.
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