| BRCA1 and BRCA2 mutations in a South American population L Jara, S Ampuero, E Santibánez, L Seccia, J Rodríguez, M Bustamante, ... Cancer genetics and cytogenetics 166 (1), 36-45, 2006 | 85 | 2006 |
| Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study GM Repetto, ML Guzmán, I Delgado, H Loyola, M Palomares, G Lay-Son, ... BMJ open 4 (11), e005041, 2014 | 73 | 2014 |
| Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome … LE León, F Benavides, K Espinoza, C Vial, P Alvarez, M Palomares, ... Scientific reports 7 (1), 1795, 2017 | 35 | 2017 |
| Prevalencia al nacimiento de microtia-anotia. Maternidad del Hospital Clínico de la Universidad de Chile, período 1983-2005. [Prevalence of microtia and anotia at the maternity … J Nazer, G Lay-Son, L Cifuentes Revista médica de Chile 134 (10), 1295, 2006 | 35* | 2006 |
| Genetic testing to inform epilepsy treatment management from an international study of clinical practice D McKnight, A Morales, KE Hatchell, SL Bristow, JL Bonkowsky, MS Perry, ... JAMA neurology 79 (12), 1267-1276, 2022 | 34 | 2022 |
| Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations G Lay-Son, A Puga, P Astudillo, GM Repetto, ... Journal of Cystic Fibrosis 10 (1), 66-70, 2011 | 32 | 2011 |
| Axenfeld-Rieger syndrome: More than meets the eye LM Reis, M Maheshwari, J Capasso, H Atilla, L Dudakova, S Thompson, ... Journal of Medical Genetics 60 (4), 368-379, 2023 | 31 | 2023 |
| Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies G Lay-Son, K Espinoza, C Vial, JC Rivera, ML Guzmán, GM Repetto Jornal de pediatria 91, 189-195, 2015 | 28 | 2015 |
| HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the … DDC Burkardt, A Zachariou, C Loveday, CL Allen, DJ Amor, A Ardissone, ... American Journal of Medical Genetics Part A 179 (10), 2049-2055, 2019 | 24 | 2019 |
| Medical genetics and genetic counseling in Chile SB Margarit, M Alvarado, K Alvarez, G Lay-Son Journal of Genetic Counseling 22 (6), 869-874, 2013 | 22 | 2013 |
| Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families L Jara, S Ampuero, E Santibáñez, L Seccia, J Rodríguez, M Bustamante, ... Biological research 37 (3), 469-481, 2004 | 20 | 2004 |
| Growth in Chilean infants with chromosome 22q11 microdeletion syndrome ML Guzman, I Delgado, G Lay‐Son, E Willans, A Puga, GM Repetto American Journal of Medical Genetics Part A 158 (11), 2682-2686, 2012 | 17 | 2012 |
| Displasia ectodérmica hipohidrótica, caso clínico y revisión de la literatura L Araníbar, G Lay-Son, P Sanz, S Castillo Revista chilena de pediatría 76 (2), 166-172, 2005 | 17* | 2005 |
| Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas: resultado de la experiencia CIMAF-Hospital Dr. Sótero Del Río P Vargas, T Mergudich, C Martinovic, V Córdova, R Valdés, D Luna, ... Revista chilena de obstetricia y ginecología 85 (4), 358-365, 2020 | 15 | 2020 |
| Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome G Lay-Son, M Palomares, ML Guzman, M Vasquez, A Puga, GM Repetto International Journal of Pediatric Otorhinolaryngology 76 (12), 1726-1728, 2012 | 14 | 2012 |
| Conocimiento sobre el ácido fólico en la prevención de defectos de cierre del tubo neural: una encuesta a mujeres que viven en Santiago de Chile; Awareness of post partum women … RA Pardo V, G Lay-Son R, W Aranda C, M Dib M, P Espina M, ... Rev. méd. Chile 135 (12), 1551-1557, 2007 | 13* | 2007 |
| Skeletal dysplasias in Latin America DP Cavalcanti, V Fano, C Mellado, MDJ Lacarrubba‐Flores, C Silveira, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 12 | 2020 |
| Perspectivas actuales sobre el diagnóstico genómico en pediatría G Lay-Son, L León Revista chilena de pediatría 86 (1), 3-11, 2015 | 12 | 2015 |
| Genética y fibrosis quística: Desde el gen CFTR a los factores modificadores G Lay-Son, G Repetto NEUMOLOGIA PEDIATRICA, 4, 2010 | 12 | 2010 |
| 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 … Y Lacassie, B Johnson, G Lay‐Son, R Quintana, A King, F Cortes, ... American Journal of Medical Genetics Part A 182 (7), 1767-1775, 2020 | 9 | 2020 |
Cecilia VialAssociate Professor, Universidad del DesarrolloVerified email at udd.cl
