A monoallelic UXS1 variant associated with short‐limbed short stature.

Autor: Rustad, Cecilie F.¹ (AUTHOR), Backe, Paul Hoff^2,3 (AUTHOR), Jin, Chunsheng⁴ (AUTHOR), Merckoll, Else⁵ (AUTHOR), Tveten, Kristian⁶ (AUTHOR), Maciej‐Hulme, Marissa Lucy⁷ (AUTHOR), Karlsson, Niclas^7,8 (AUTHOR), Prescott, Trine⁶ (AUTHOR), Sand, Elise Sandås⁹ (AUTHOR), Woldseth, Berit⁹ (AUTHOR), Elgstøen, Katja Benedikte Prestø⁹ (AUTHOR), Holla, Øystein L.⁶ (AUTHOR) oholla@sthf.no

Publikováno v: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-14. 14p.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Autor: Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

Publikováno v: In The American Journal of Human Genetics 6 May 2021 108(5):857-873

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Autor: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Coban Akdemir, Zeynep H., Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla M., Canter, Debra L., Mace, Emily M., Vece, Timothy J., Allen, Carl E., Abhyankar, Harshal A., Boone, Philip M., Beck, Christine R., Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E., Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T.N., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas L., Chinen, Javier, Cao, Tram N., Smith, Eric A., Caldirola, Maria Soledad, Bezrodnik, Liliana, Lugo Reyes, Saul Oswaldo, Espinosa Rosales, Francisco J., Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Trujillo Vargas, Claudia M., Aldave Becerra, Juan Carlos, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M., Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.

Publikováno v: In The Journal of Allergy and Clinical Immunology January 2017 139(1):232-245

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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Autor: Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo

Publikováno v: American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p2958-2968, 11p