Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features
Hume, Esteban, Cossio, María‐Laura, Vargas, Paula, Cubillos, María Paz, Maccioni, Andrea, Lay‐Son, Guillermo
Published in American journal of medical genetics. Part A (01.11.2024)
Published in American journal of medical genetics. Part A (01.11.2024)
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Journal Article
Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
Lacassie, Yves, Johnson, Britt, Lay‐Son, Guillermo, Quintana, Rita, King, Andrew, Cortes, Fanny, Alvarez, Cecilia, Gomez, Ricardo, Vargas, Alfonso, Chalew, Stuart, King, Alejandra, Guardia, Sylvia, Sorensen, Ricardo U., Aradhya, Swaroop
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
Skeletal dysplasias in Latin America
Cavalcanti, Denise P., Fano, Virginia, Mellado, Cecilia, Lacarrubba‐Flores, Maria Dora J., Silveira, Cynthia, Silveira, Karina C., Pino, Mariana, Moresco, Angelica, Caino, Silvia, Ramos Mejía, Rosario, García, Cristián J., Lay‐Son, Guillermo, Ferreira, Carlos R.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
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Journal Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Burkardt, Deepika D'Cunha, Zachariou, Anna, Loveday, Chey, Allen, Clare L., Amor, David J., Ardissone, Anna, Banka, Siddharth, Bourgois, Alexia, Coubes, Christine, Cytrynbaum, Cheryl, Faivre, Laurence, Marion, Gerard, Horton, Rachel, Kotzot, Dieter, Lay‐Son, Guillermo, Lees, Melissa, Low, Karen, Luk, Ho‐Ming, Mark, Paul, McConkie‐Rosell, Allyn, McDonald, Marie, Pappas, John, Phillipe, Christophe, Shears, Deborah, Skotko, Brian, Stewart, Fiona, Stewart, Helen, Temple, I Karen, Mau‐Them, Frederic T., Verdugo, Ricardo A., Weksberg, Rosanna, Zarate, Yuri A., Graham, John M., Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Action against birth defects: if not now, when?
Strong, Kathleen, Robb-McCord, Judith, Walani, Salimah, Mellado, Cecilia, Botto, Lorenzo D, Lay-Son, Guillermo, Diaz, Theresa, Banu, Tahmina, Lakhoo, Kokila, Banerjee, Anshu
Published in Global health action (31.12.2024)
Published in Global health action (31.12.2024)
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Journal Article
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.
Published in Scientific reports (11.05.2017)
Published in Scientific reports (11.05.2017)
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Journal Article
Medical Genetics and Genetic Counseling in Chile
Margarit, Sonia B., Alvarado, Mónica, Alvarez, Karin, Lay-Son, Guillermo
Published in Journal of genetic counseling (01.12.2013)
Published in Journal of genetic counseling (01.12.2013)
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Journal Article
Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas: resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río
Vargas, Paula, Mergudich, Tania, Martinovic, Carolina, Córdova, Víctor, Valdés, Rafael, Luna, Daniela, Prieto, Juan Francisco, Silva, Pablo, Silva, Karla, Lay- Son, Guillermo, Kusanovic, Juan Pedro
Published in Revista chilena de obstetricia y ginecología (01.08.2020)
Published in Revista chilena de obstetricia y ginecología (01.08.2020)
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Journal Article
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families
Jara, Lilian, Ampuero, Sandra, Santibáñez, Eudocia, Seccia, Lorena, Rodríguez, Juan, Lay-Son, Mario Bustamante Guillermo, Ojeda, José Manuel, Reyes, José Miguel, Blanco, Rafael
Published in Biological research (2004)
Published in Biological research (2004)
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Journal Article
Chilean primary health workers' knowledge about folic acid supplementation for the prevention of neural tube defects
Pardo, Rosa, Lay-Son, Guillermo, Aranda, Waldo, Recabal, Pedro, Navarrete, Maria, Tenhamm, Tamara, Rebolledo, Cristian, Dib, Martin, Muñoz, María, Muñoz, Pilar, Espina, Pablo, Ojeda, Natalia, Parra, Jorge
Published in American journal of medical genetics. Part A (01.06.2006)
Published in American journal of medical genetics. Part A (01.06.2006)
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Journal Article
Axenfeld-Rieger syndrome: more than meets the eye
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.
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Journal Article
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
Poli, M. Cecilia, Rebolledo-Jaramillo, Boris, Lagos, Catalina, Orellana, Joan, Moreno, Gabriela, Martín, Luz M., Encina, Gonzalo, Böhme, Daniela, Faundes, Víctor, Zavala, M. Jesús, Hasbún, Trinidad, Fischer, Sara, Brito, Florencia, Araya, Diego, Lira, Manuel, de la Cruz, Javiera, Astudillo, Camila, Lay-Son, Guillermo, Cares, Carolina, Aracena, Mariana, Martin, Esteban San, Coban-Akdemir, Zeynep, Posey, Jennifer E., Lupski, James R., Repetto, Gabriela M.
Published in European journal of human genetics : EJHG (04.01.2024)
Published in European journal of human genetics : EJHG (04.01.2024)
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Journal Article
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
Jimenez, Yanireth, Paulsen, Cesar, Turner, Eduardo, Iturra, Sebastian, Cuevas, Oscar, Lay-son, Guillermo, Repetto, Gabriela M., Rojas, Marcelo, Calderon, Juan F.
Published in Genes (08.06.2022)
Published in Genes (08.06.2022)
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Journal Article
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.
Published in Genetics in medicine (17.07.2024)
Published in Genetics in medicine (17.07.2024)
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Journal Article
Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2
Faundes, Victor, Pardo, Rosa, Cammarata-Scalisi, Francisco, Alarcon, Pablo, Lay-Son, Guillermo, San Martin, Esteban
Published in Andes pediatrica : revista Chilena de pediatria (01.04.2021)
Published in Andes pediatrica : revista Chilena de pediatria (01.04.2021)
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Conference Proceeding
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
Repetto, Gabriela M, Guzmán, M Luisa, Delgado, Iris, Loyola, Hugo, Palomares, Mirta, Lay-Son, Guillermo, Vial, Cecilia, Benavides, Felipe, Espinoza, Karena, Alvarez, Patricia
Published in BMJ open (06.11.2014)
Published in BMJ open (06.11.2014)
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Journal Article