Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

por León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.
Publicado 2017

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

por Jimenez, Yanireth, Paulsen, Cesar, Turner, Eduardo, Iturra, Sebastian, Cuevas, Oscar, Lay-son, Guillermo, Repetto, Gabriela M., Rojas, Marcelo, Calderon, Juan F.
Publicado 2022

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

por Repetto, Gabriela M, Guzmán, M Luisa, Delgado, Iris, Loyola, Hugo, Palomares, Mirta, Lay-Son, Guillermo, Vial, Cecilia, Benavides, Felipe, Espinoza, Karena, Alvarez, Patricia
Publicado 2014

Axenfeld-Rieger syndrome: more than meets the eye

por Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Publicado 2023

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

por McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C.E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A., Guzmán, Guillermo G., Pavliuk, Mariia
Publicado 2022