| Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... The American Journal of Human Genetics 102 (6), 1126-1142, 2018 | 182 | 2018 |
| 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 | 85 | 2014 |
| Association between phenotype and deletion size in 22q11. 2 microdeletion syndrome: systematic review and meta-analysis MF Rozas, F Benavides, L León, GM Repetto Orphanet journal of rare diseases 14 (1), 195, 2019 | 71 | 2019 |
| Deletion size analysis of 1680 22q11. 2DS subjects identifies a new recombination hotspot on chromosome 22q11. 2 T Guo, A Diacou, H Nomaru, DM McDonald-McGinn, M Hestand, ... Human molecular genetics 27 (7), 1150-1163, 2018 | 36 | 2018 |
| 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 |
| Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals F Benavides, N Grossman, H Poggi, E Nieto, A Bertran, D Araos, ... | 20* | 2015 |
| Undiagnosed Diseases Network members. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... Am J Hum Genet 102 (6), 1126-42, 2018 | 13 | 2018 |
| Estructuras portuarias de hormigón armado en Chile A Carvajal, F Benavides, C Silva, J Valiente, A Venegas Estudio de las Variables: Tipo de Cemento y Razón Agua/Cemento que Inciden …, 2003 | 9 | 2003 |
| Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas C Aron, G Rauch, F Benavides, MG Repetto Revista chilena de pediatría 90 (2), 152-156, 2019 | 8 | 2019 |
| 22q11. 2 microduplications: Two clinical reports compared with similar cases from the literature A Oyetunji, MG Butler Journal of pediatric genetics 9 (03), 211-220, 2020 | 7 | 2020 |
| Inferring possible population divergence in Espeletia pycnophylla (Asteraceae) through morphometric and paleogeographic approaches F Benavides, J Burbano, D Burbano, R Prieto, C Torres Revista de biología tropical 58 (4), 1261-1270, 2010 | 7 | 2010 |
| ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS G Dominguez-Menéndez, HP Mayorga, M Arancibia, F Benavides, ... Growth Hormone & IGF Research 48, 5-8, 2019 | 6 | 2019 |
| Molecular diagnosis in patients with retinoblastoma: report of a series of cases D Ossandón, M Zanolli, JP López, F Benavides, V Pérez, GM Repetto Archivos de la Sociedad Española de Oftalmología (English Edition) 91 (8 …, 2016 | 5* | 2016 |
| No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies MI Rivera-Hechem, C Rodríguez-Sickert, RA Guzmán, T Ramírez-Parada, ... Plos one 15 (12), e0244189, 2020 | 4 | 2020 |
| members Undiagnosed Diseases Network, BA Zieba, S. Kury, E. Kruger, JR Lupski, BL Bostwick, and JS Orange. 2018. Heterozygous Truncating Variants in POMP Escape Nonsense … MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... Am J Hum Genet 102, 1126-1142, 0 | 4 | |
| Somatic Mosaicism for Paternal Uniparental Disomy of 11p15. 5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome A Urzua, S Burattini, C Pinochet, F Benavides, GM Repetto Journal of Pediatric Genetics 8 (04), 226-230, 2019 | 3 | 2019 |
| First report of an Igfals mutation in a chilean patient with growth hormone insensitivity and low levels of Igf1 and Igfbp3 H Poggi, F Benavides, A Martinez-Aguayo HORMONE RESEARCH IN PAEDIATRICS 88, 134-134, 2017 | 2 | 2017 |
| FITTING TWO SIMPLE PROBABILISTIC MODELS FOR COVID–19 WITH DATA FROM ECUADOR F Benavides, JR Leiton JOURNAL OF MATHEMATICAL CONTROL SCIENCE AND APPLICATIONS Учредители: Muk …, 2020 | 1 | 2020 |
| Metodología de Obtención de Muestras de Hormigón en Polvo para Análisis de Cloruro y Correlación entre el Contenido de Cloruros en Ambiente Marino Real por Cinco Años y … AM Carvajal, P Maturana, F Benavides, JE Cortés Revista de la Construcción 9 (1), 74-80, 2010 | 1 | 2010 |
| Methodology to Obtain Powder Concrete Samples for the Analysis of Chloride and Correlation Between the Content of Chloride in the Real Sea Environment for Five Years and the … AM Carvajal, P Maturana, F Benavides, JE Cortes Revista de la Construcción 9 (1), 74-80, 2010 | 1 | 2010 |
