Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autor: Castilla-Vallmanya, Laura, Selmer, Kaja K., Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R.F., van Essen, Antonie J., Oufadem, Myriam, Vigeland, Magnus D., Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W., Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K., Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M., Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara, Beaver, Erin M., Heeley, Jennifer, Briere, Lauren C., High, Frances A., Sweetser, David A., Walker, Melissa A., Keegan, Catherine E., Jayakar, Parul, Shinawi, Marwan, Kerstjens-Frederikse, Wilhelmina S., Earl, Dawn L., Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie, Karlowicz, Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M., Slavotinek, Anne, Barbouth, Deborah, Morel Swols, Dayna, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Pingault, Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells, Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti, Roser, Gordon, Christopher T.

Publikováno v: In Genetics in Medicine July 2020 22(7):1215-1226

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

Autor: Borja, Nicholas, Zafeer, Mohammad Faraz, Rodriguez, Jeimy Alfonso, Morel Swols, Dayna, Thorson, Willa, Bademci, Guney, Tekin, Mustafa

Publikováno v: American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p1044-1049, 6p

KBG syndrome.

Autor: Swols, Dayna Morel, Foster II, Joseph, Tekin, Mustafa, Morel Swols, Dayna, Foster, Joseph 2nd

Publikováno v: Orphanet Journal of Rare Diseases; 12/19/2017, Vol. 12, p1-7, 7p

KBG syndrome.

Autor: Morel Swols D; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA., Foster J 2nd; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Department of Graduate Education, School of Medicine, 130 Mason Farm Road, CB7108, Chapel Hill, 27599, USA., Tekin M; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA. mtekin@miami.edu.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. mtekin@miami.edu.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Dec 19; Vol. 12 (1), pp. 183. Date of Electronic Publication: 2017 Dec 19.