Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci, Ilaria, Dang, Nghi D P, Huber, Hannes, Murry, Jaclyn B, Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J, Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A, Braathen, Geir Julius, Busk, Øyvind L, Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F, Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A, Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W, Brenman, Leslie Manace, Martinez-Agosto, Julian A, Might, Matthew, Miller, David T, Minks, Kelly Q, Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F, Parant, John M, Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F, Schuurs-Hoeijmakers, Janneke, Shieh, Perry B, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P A, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor
Published in Genome medicine (21.05.2021)
Published in Genome medicine (21.05.2021)
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
Marcogliese, Paul C, Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D P, Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A, Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D, Network, Undiagnosed Diseases, Pena, Loren D M, Yamamoto, Shinya, Nelson, Stanley F, Might, Matthew, Meyer, Kathrin C, Yeo, Nan Cher, Bellen, Hugo J
Published in Science advances (21.01.2022)
Published in Science advances (21.01.2022)
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