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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

by Lin, Sheng-Jia, Orr, David, Holden, Simon, Harrison, Mike, Burrows, Nigel, Petree, Cassidy, Donnelly, Deirdre, Ambrose, J.C., Arumugam, P., Boardman-Pretty, F., Chan, G.C., Henderson, S., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Lopez, F.J., Maleady-Crowe, F., O‘Donovan, P., Patch, C., Pereira, M.B., Rahim, T., Savage, K., Sieghart, A., Taylor Tavares, A.L., Thomas, E.R.A., Tucci, A., Welland, M.J., Williams, E., Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M., Kessler, Christoph, Traschütz, Andreas, Schöls, Ludger, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, van Os, Nienke, Janssen, Erik, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Mehtarizadeh, Mehdi, Töpf, Ana, Banka, Siddharth, Faivre, Laurence, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Laurie, Steven, Matalonga, Leslie, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Hanauer, Marc, Havrylenko, Svitlana, Izem, Katia, Nelson, Isabelle, Eymard, Bruno, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremlik, Vlastimil, Parkinson, Helen, Robinson, Peter, Hanna, Mike, Houlden, Henry, Vandrovcova, Jana, Muntoni, Francesco, Sarkozy, Anna, Van de Vondel, Liedewei, Banfi, Sandro, Aretz, Stefan, Spier, Isabel, José, Celina São, Ferreira, Marta, Carneiro, Fátima, Johansson, Lennart, van der Vries, Gerben, Roelofs-Prins, Dieuwke, Castello, Raffaele, Morleo, Manuela, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Renieri, Alessandra, Benetti, Elisa, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Polavarapu, Kiran, Beeson, David, Udd, Bjarne, Holinski-Feder, Elke, Steinke-Lange, Verena, Schröck, Evelin, Varshney, Gaurav K.
Published in HGG advances (13.04.2023)

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

by Niggl, Eva, Elgersma, Minetta, Clayton-Smith, Jill, Jain, Mahim, Krantz, Ian, Vetrini, Francesco, Witt, Dennis, Zhou, Dihong, Arumugam, P., Boardman-Pretty, F., Brown, M.A., Chan, G.C., Henderson, S., Kayikci, M., Kousathanas, A., Lahnstein, L., Maleady-Crowe, F., McEntagart, M., Minneci, F., O‘Donovan, P., Pereira, M.B., Rahim, T., Savage, K., Sawant, K., Smith, S.C., Sosinsky, A., Tucci, A., Williams, E., Alvey, Justin, Andrews, Ashley, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Bejerano, Gill, Bican, Anna, Bivona, Stephanie, Bonner, Devon, Burke, Elizabeth A., Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Corona, Rosario, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Fisher, Paul G., Fu, Jiayu, Gahl, William A., Hamid, Rizwan, Hassey, Kelly, Huang, Yan, Introne, Wendy, Izumi, Kosuke, Jean-Marie, Orpa, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kohane, Isaac S., Krakow, Deborah, Lewis, Richard A., Loscalzo, Joseph, Maghiro, AudreyStephannie, Mahoney, Rachel, Mao, Rong, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mirzaa, Ghayda, Morava, Eva, Morimoto, Marie, Nelson, Stanley F., Novacic, Donna, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rossignol, Francis, Schaechter, Judy, Shashi, Vandana, Shin, Jimann, Sinsheimer, Janet, Solnica-Krezel, Lilianna, Sullivan, Kathleen, Tan, Amelia L., Tarakad, Arjun, Telischi, Fred, Urv, Tiina K., Wahl, Colleen E., Wan, Jijun
Published in American journal of human genetics (03.08.2023)

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