A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G
Published in European journal of human genetics : EJHG (01.02.2021)
Published in European journal of human genetics : EJHG (01.02.2021)
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P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism
Chen, Yunjia, Karaca, Ender, Robin, Nathaniel, Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna, Carroll, Andrew, Mikhail, Fady
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Chen, Yunjia, Karaca, Ender, Robin, Nathaniel H, Goodloe, Dana, Al-Beshri, Ali, Dean, S Joy, Hurst, Anna C E, Carroll, Andrew J, Mikhail, Fady M
Published in Genetics in medicine (01.01.2024)
Published in Genetics in medicine (01.01.2024)
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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth
Published in Science advances (28.04.2023)
Published in Science advances (28.04.2023)
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
Published in Molecular genetics & genomic medicine (01.10.2021)
Published in Molecular genetics & genomic medicine (01.10.2021)
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