De novo mutations in PURA are associated with hypotonia and developmental delay

Por Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.
Publicado no Cold Spring Harb Mol Case Stud (2015)

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

Por Chinen, Javier, Davis, Joie, De Ravin, Suk See, Hay, Beverly N., Hsu, Amy P., Linton, Gilda F., Naumann, Nora, Nomicos, Effie Y. H., Silvin, Christopher, Ulrick, Jean, Whiting-Theobald, Narda L., Malech, Harry L., Puck, Jennifer M.
Publicado em 2007

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Por Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme
Publicado em 2009

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Por Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Publicado no Hum Mutat (2016)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

Por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado no Genet Med (2016)

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Por Kwan, Antonia, Abraham, Roshini S., Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K., Baker, Mei, Ballow, Mark, Bartoshesky, Louis E., Bonagura, Vincent R., Bonilla, Francisco A., Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A., Comeau, Anne Marie, Connelly, James A., Cowan, Morton J., Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T., Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W., Hale, Jaime E., Celine Hanson, I., Hay, Beverly N., Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M., Kohn, Donald B., Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B., Naides, Stanley J., Notarangelo, Luigi D., Orange, Jordan S., Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A., Scott, Ginger, Scott, Patricia M., Secord, Elizabeth, Seroogy, Christine, Shearer, William T., Siegel, Subhadra, Silvers, Stacy K., Stiehm, E. Richard, Sugerman, Robert W., Sullivan, John L., Tanksley, Susan, Tierce, Millard L., Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E., Wasserman, Richard L., Watson, Michael S., Weinberg, Geoffrey A., Weiner, Leonard B., Wood, Heather, Yates, Anne B., Puck, Jennifer M.
Publicado no JAMA (2014)