The global state of the genetic counseling profession MA Abacan, L Alsubaie, K Barlow-Stewart, B Caanen, C Cordier, ... European Journal of Human Genetics 27 (2), 183-197, 2019 | 302 | 2019 |
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results R Dorfman, W Li, L Sun, F Lin, Y Wang, A Sandford, PD Paré, K McKay, ... Human genetics 126, 763-778, 2009 | 72 | 2009 |
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families P Gonzalez-Hormazabal, S Gutierrez-Enriquez, D Gaete, JM Reyes, ... Breast cancer research and treatment 126, 705-716, 2011 | 56 | 2011 |
Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population L Jara, K Dubois, D Gaete, T De Mayo, N Ratkevicius, T Bravo, S Margarit, ... Breast cancer research and treatment 122, 813-822, 2010 | 54 | 2010 |
Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population L Jara, P Gonzalez-Hormazabal, K Cerceno, GA Di Capua, JM Reyes, ... Breast cancer research and treatment 137, 559-569, 2013 | 47 | 2013 |
Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population I Elematore, P Gonzalez-Hormazabal, JM Reyes, R Blanco, T Bravo, ... Molecular biology reports 41, 3715-3722, 2014 | 43 | 2014 |
The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population P Gonzalez-Hormazabal, JM Reyes, R Blanco, T Bravo, I Carrera, ... Molecular biology reports 39, 8091-8098, 2012 | 28 | 2012 |
Medical genetics and genetic counseling in Chile SB Margarit, M Alvarado, K Alvarez, G Lay-Son Journal of Genetic Counseling 22, 869-874, 2013 | 22 | 2013 |
Cáncer hereditario de mama S Margarit Revista chilena de radiología 14 (3), 135-141, 2008 | 19 | 2008 |
¿ Qué es el asesoramiento genético y cómo realizarlo en oncología? S Margarit Revista Médica Clínica Las Condes 28 (4), 524-530, 2017 | 8 | 2017 |
Where culture meets genetics: Exploring Latina immigrants’ lay beliefs of disease inheritance K Fiallos, J Owczarzak, J Bodurtha, SB Margarit, L Erby Social Science & Medicine 271, 112179, 2021 | 7 | 2021 |
Multiple synchronous adenocarcinomas of the small bowel in a young patient: A case report C Cavalla, F Oppliger, G Schiappacasse, R Valderrama, A Castiblanco, ... International Journal of Surgery Case Reports 42, 250-253, 2018 | 4 | 2018 |
Peering into a Chilean Black Box: parental storytelling in pediatric genetic counseling J Ordonez, S Margarit, K Downs, BM Yashar Journal of genetic counseling 22, 805-816, 2013 | 4 | 2013 |
¿ Cuándo sospechar un cáncer hereditario de mama? S Margarit, G Repetto, F Cádiz Contacto Científico Clínica Alemana 4 (2), 2014 | 1 | 2014 |
Latina immigrants’ breast and colon cancer causal attributions: genetics is key K Fiallos, J Owczarzak, J Bodurtha, S Margarit, LH Erby Journal of Community Genetics 15 (1), 59-73, 2024 | | 2024 |
More Alike than Different: Latina Immigrants’ Cancer Causal Attributions K Fiallos, J Owczarzak, J Bodurtha, S Margarit, LH Erby | | 2022 |
Integración de conceptos básicos de Genética y Genómica a la aplicación clínica mediante recursos virtuales G Repetto, S Margarit, LM Martín Universidad del Desarrollo. Centro de Innovación Docente, 2022 | | 2022 |
Desarrollo e implementación de programa de evaluación de riesgo oncológico mamario, experiencia inicial F Cádiz, J Puga, P Raimilla, S Margarit, C Salas, MA Pinochet, E Horvath, ... Contacto Científico 5 (6), 2015 | | 2015 |
Relevancia del asesoramiento genético como proceso clave del programa de alto riesgo de cáncer de mama S Margarit, P Raimilla, J Camacho, F Cádiz Contacto Científico 5 (6), 2015 | | 2015 |